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(1) Submission ID#731441 Osseous Lesions of the Head and Face in Children Submitter: Peter Kalina – Mayo Clinic Author(s) Zachary LoVerde, MD Mayo Clinic Peter Kalina Mayo Clinic Michelle Silvera Mayo Clinic Submission Topic Head and Neck Abstract Objective: The objective of this educational exhibit is to provide imaging, brief descriptions and discussions highlighting several types of osseous lesions (and their mimics) which may be found in the head and face of pediatric patients. Learning Points: Because many of the described lesions can look fairly similar to one another, specific imaging features can be greatly helpful in narrowing the differential diagnosis that we provide in our reports. This specificity will help us contribute the maximum value to our patients and to our referring clinicians. Discussion: Among others, some of the many entities described will include: ossifying fibroma, osteoma, fibrous dysplasia, LCH, chondrosarcoma, osteosarcoma, cholesterol granuloma, petrous apicitis, mastoiditis, enlarged vestibular aqueduct, hemangioma, dermoid, epidermoid, giant cell granuloma, ABC and cephalohematoma. References: Kalina P, et al. Aneurysmal Bone Cyst of the Occipital Bone. Journal of Pediatrics. 2015;167:496 1 of 200

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Page 1: - Call for Abstracts · Web viewMalformations of cortical development: clinical features and genetic causes. The Lancet Neurology, 13(7), 710-726. The Lancet Neurology, 13(7), 710-726

(1) Submission ID#731441Osseous Lesions of the Head and Face in ChildrenSubmitter: Peter Kalina – Mayo Clinic

Author(s)

Zachary LoVerde, MDMayo Clinic

Peter Kalina

Mayo Clinic

Michelle Silvera

Mayo Clinic

Submission TopicHead and Neck

Abstract

Objective: The objective of this educational exhibit is to provide imaging, brief descriptions and discussions highlighting several types of osseous lesions (and their mimics) which may be found in the head and face of pediatric patients.

 

Learning Points: Because many of the described lesions can look fairly similar to one another, specific imaging features can be greatly helpful in narrowing the differential diagnosis that we provide in our reports. This specificity will help us contribute the maximum value to our patients and to our referring clinicians.

 

Discussion: Among others, some of the many entities described will include: ossifying fibroma, osteoma, fibrous dysplasia, LCH, chondrosarcoma, osteosarcoma, cholesterol granuloma, petrous apicitis, mastoiditis, enlarged vestibular aqueduct, hemangioma, dermoid, epidermoid, giant cell granuloma, ABC and cephalohematoma.

 

References: Kalina P, et al.  Aneurysmal Bone Cyst of the Occipital Bone. Journal of Pediatrics. 2015;167:496

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(2) Submission ID#731577Pediatric High Grade Gliomas - Differentiating the Genetic Subtypes of Histone H3G34 Mutant, Histone H3K27M Mutant, and IDH-1 Mutant TumorsSubmitter: Jeffrey Bennett – The University of Arizona

Author(s)

Jeffrey A. Bennett, MD

Associate Professor of Radiology and Neuroradiology Division Chief

The University of Arizona

Grace Renshaw, MD

Radiology Resident

University of Arizona

Audrey Nisbet, n/a

Medical Student

University of Arizona

Ryan Bruhns, MD

Pathology Resident

University of Arizona

Submission TopicBrain - Tumors

Abstract Objectives:

1. Review the MR imaging features of the main genomic subtypes of pediatric high grade gliomas, specifically the Histone H3K27M mutant tumors, Histone H3G34 mutant tumors, and IDH-1 mutant tumors.

2. Understand the process of making the pathologic diagnosis of these tumors.

Learning Points:

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1. Pediatric high grade gliomas have different genetic profiles from adult glioblastomas. Imaging of histone H3K27M mutant, histone H3G34 mutant and IDH-1 mutant tumors are presented.

2. The pathologic diagnosis involves evaluation of histology, immunohistochemistry, as well as genomic sequencing.

Discussion:

1. Diffuse midline glioma most commonly occurs in the brainstem where it is referred to as DIPG (diffuse intrinsic pontine glioma). It is also seen in the thalami, or more rarely in the cerebellum or spinal cord. It is listed in the 2016 WHO brain tumor classification as diffuse midline glioma with histone H3K27M mutation. The prognosis is terrible.

2. Pediatric high grade glioma with histone H3G34 mutation likely has a different cell of origin than the H3K27M tumors. It occurs in a different location, specifically the cerebral hemispheres, and most commonly the temporal and parietal lobes. There are 2 appearances of this tumor, one similar to glioblastoma, and the other similar to an undifferentiated embryonal tumor. This tumor is not yet part of the WHO classification of brain tumors and it is less well understood.

3. The common adult glioblastoma with IDH-1 mutant or IDH-1 wildtype is very rare in children. IDH-1 mutant GBM occurs at an earlier age than the IDH-1 wildtype and when it is seen in an older pediatric patient, it is likely an early presentation of the adult variety of GBM.

4. The pathologic diagnosis of these tumors involves histologic evaluation, immunohistochemistry and genomic testing with PCR. The genomic testing is not routinely performed, but likely will become more routine.

References:

1. Gianno F, Antonelli M, Ferretti E, Massimino M, Arcella A, Giangaspero F. Pediatric high-grade glioma: A heterogenous group of neoplasms with different molecular drivers. Glioma 2018;1:117-24.

2. Sturm D, Pfister S, Jones D. Pediatric gliomas: Current concepts on diagnosis, biology, and clinical management. J Clin Oncol 2017;38;21:2370-77.

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(3) Submission ID#734228Parry Romberg Syndrome: What Is Your Differential Diagnosis in Such a Rare Disease?Submitter: Cathy Zhou – University of California Davis

Author(s)

Cathy Zhou

University of California Davis

William Benko

University of California Davis

Nancy Pham

University of California Davis

Osama A. Raslan

University of California Davis

Matthew Bobinski

University of California Davis

Arzu Ozturk

Associate Professor

University of California Davis Sacramento Medical Center

Submission TopicBrain - Other

Abstract

Objective:

To review the intracranial imaging findings and differential considerations of Parry Romberg Syndrome.

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Learning Points:

Parry-Romberg syndrome (PRS), also known as progressive hemifacial atrophy, is a rare disease characterized by insidious degeneration of the soft tissues of half of the face centered in the maxillary region and occasionally the ipsilateral extremities. Age of onset is typically in the first decade, with a slight female predominance.

Commonly patients present with neurological manifestations, including seizures, migraines, and hemiplegia. Ophthalmologic symptoms include enophthalmos, uveitis, and glaucoma, and orthodontic features such as teeth involvement and mandibular lesions have also been described.

On imaging, facial findings include hemifacial atrophy with obliteration of fat planes. There is a wide variety of intracranial attributes including linear or discrete subcortical calcifications in the frontal lobe, white matter abnormalities, and focal or hemispheric brain volume loss, typically ipsilateral to the affected side, which may worsen with disease progression. Less commonly seen features include leptomeningeal disease, loss of cortical gyration, and ventricular dilation; imaging may even be normal. Patients can also have vascular anomalies and microhemorrhages, with associated complications.

Discussion:

The presentation of one-sided atrophy is a unique finding and prompts a focused differential. PRS shares many clinical features with en coup de sabre, a rare variant of scleroderma presenting in the pediatric population as a linear furrow of soft tissue atrophy involving the forehead and skull. Patients may also have neurological issues with corresponding white matter abnormalities, leptomeningeal enhancement, and subcortical calcifications. Parenchymal atrophy is usually focal and subtle.

PRS also shares features with Rasmussen encephalitis (RE) resulting in epilepsy and progressive hemiplegia, typically affecting children. On imaging, there are predominantly unilateral hemispheric signal abnormalities with eventual development of cerebral atrophy, which may be indistinguishable from intracranial findings of PRS.

Other diseases with facial asymmetry as a prominent clinical feature include hemifacial microsomia and Goldenhar syndrome, but unlike PRS, these conditions are typically congenital and nonprogressive.

Imaging, particularly MR, helps distinguish cranial involvement of PRS from other conditions, document the extent of disease, monitor disease progression, and evaluate treatment response.

References:

1. Sharma M, Bharatha A, Antonyshyn OM, et al. Case 178: Parry-Romberg syndrome. Radiology 2012;262:72125

2. Wong M, Phillips CD, Hagiwara M, Shatzkes DR. Parry Romberg Syndrome: 7 Cases and Literature Review. AJNR Am J Neuroradiol. 2015 Jul;36(7):1355-61

3. El-Kehdy J, Abbas O, Rubeiz N. A review of Parry-Romberg syndrome. J Am Acad Dermatol. 2012 Oct;67(4):769-84

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(4) Submission ID#734719Commonly Missed Lesions in Epilepsy Work up ImagingSubmitter: Ryan Kelsch – Beaumont Heath, Royal Oak

Author(s)

Ryan D. Kelsch

Resident

Beaumont Heath, Royal Oak

Anant Krishnan

Beaumont Health, Royal Oak

Ay-Ming Wang, MD

Beaumont Health

Daniel Arndt

Beaumont Health

Submission TopicBrain - Epilepsy

Abstract Commonly Missed Lesions in Epilepsy Work Up Imaging Educational Exhibit Abstract Submission for ASPNR Annual Meeting 2020 Ryan Kelsch, DO1, Ay-Ming Wang, MD1, Daniel Arndt, MD1, Anant Krishnan, MD1 1Beaumont Health, Royal Oak, Department of Radiology and Molecular Imaging

Objective(s):

1. To define and illustrate commonly missed seizure provoking lesions

2. To use cases to show examples of missed lesions

3. To provide an algorithm to help improve accuracy in identifying seizure provoking lesions

Learning Points: Cases and explanations will be provided to showcase these and other easily missed abnormalities as well as limiting factors associated with seizure lesion diagnosis:

Global or symmetric abnormality which may be missed due to its diffuse involvement (e.g. case 2, accompanying graphic file, diffuse band heterotopia)

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Lobar abnormality which may be missed due to its lack of focal finding (e.g. case 1, accompanying graphic file, right temporal pole and lobe diffuse dysplasia)

Secondary abnormality not reported, as in satisfaction of search

Subtle dysplasias, such as depth of sulcus dysplasia

Accelerated myelination which is often missed in relationship to the normal white matter which is called atrophic

Subtle cephaloceles, especially sphenoidal

Technical limitations such as high resolution MR availability

Discussion: There are several easily missed seizure provoking lesions and associated limiting factors which can be addressed by an awareness and a focused search pattern. This exhibit will showcase how subtle and global abnormalities can easily be missed and highlight key examples to allow the viewer to more effectively diagnose potentially treatable seizure foci.

References:

Barkovich A, Raybaud C. Neuroimaging in disorders of cortical development. Neuroimaging Clin N Am 2004;14:231-254

Rastogi S, Lee C, Salamon N. Neuroimaging in Pediatric Epilepsy: A Multimodality Approach. RadioGraphics 2008;28:1079-1095

Disclosures: None

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(5) Submission ID#735322Get the Lead Out: A Brief Overview of the Clinical, Imaging and Therapeutic Options for Penetrating Cerebrovascular Injury in Pediatric Trauma Illustrated Through a Rare Case of Vertebral Artery Transection by a Pencil in a 19 Month Old FemaleSubmitter: Shruthi Suresh – Geisinger Medical Center

Author(s)

Shruthi Suresh, M.D.

Resident Physician

Geisinger Medical Center

Michael Czaplicki, D.O.

Resident Physician

Geisinger Medical Center

Marlene J. Baumann, M.D.

Staff Physician

Geisinger Medical Center

Gino Mongelluzzo, M.D.

Staff Physician

Geisinger Medical Center

Submission TopicBrain - Trauma

Abstract

Introduction:Traumatic penetrating cerebrovascular injury in the pediatric population is an uncommon injury associated with significant morbidity and mortality unless addressed promptly. The literature reports an incidence of 0.17% for blunt cerebrovascular injury in pediatric patients, with no reported incidence rate for penetrating cerebrovascular injury to date, making us believe that this is even rarer. We discuss a case of a 19 month old female who sustained a right vertebral artery transection at the distal V2 segment secondary to penetrating injury with a pencil and subsequently underwent a coil embolization proximal and distal to the transection.

Objectives:To educate radiologists in training of the clinical presentation of vertebral artery injuries, the Biffl scale for

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cerebrovascular injury, the more recent McGovern screening score and the key diagnostic features on imaging that skew therapy either in the direction of medical, endovascular or open surgery. Finally, we review the differential diagnosis for vertebral artery transection and include key discriminators on imaging for each of our differentials.

 Take Home Points: 

CTA has been the most consistently used imaging modality for initial evaluation of penetrating cerebrovascular trauma in pediatric patients. Digital Subtraction Angiography (DSA) is the gold standard for evaluation of cerebrovascular injury.

 

Diagnostic imaging features on DSA would include lack of contrast flow beyond the segment of the transected artery containing the penetrating foreign body, narrowing or luminal irregularity of the affected vertebral artery compared to the contralateral side that is often referred to as the flame sign that is characteristic for dissection. 

 

Vertebral artery thrombosis, vertebral artery dissection, procedural vertebral artery vasospasm and rotational vertebral artery occlusion are important differentials to consider and discriminate between.

 

Biffls scale grades injuries from I-V, and therapy can range from simple anti-platelet therapy to urgent endovascular intervention or open surgery.

 

Patency of the vertebrobasilar system is essential to determining endovascular versus open surgical therapy.

 

References1. De Castro SM, Christiaans SC, van den Berg R, Schep NW. Minimal invasive management of traumatic transection of the vertebral artery. Springerplus. 2014 Apr 28;3:206. doi: 10.1186/2193-1801-3-206. eCollection 2014. PubMed PMID: 24809004; PubMed Central PMCID: PMC4012030.2. Simon LV, Mohseni M. Vertebral Artery Injury. [Updated 2019 Feb 14]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2019 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK470363/3. 3. Ravindra VM, Dewan MC, AkbariH, BolloRJ, LimbrickD, JeaA, Naftel RP,Riva-CambrinJK. Management of Penetrating Cerebrovascular Injuries in Pediatric Trauma: A Retrospective Multicenter Study. Neurosurgery. 2017 Sep1;81(3):473-480. doi: 10.1093/neuros/nyx094.PubMed PMID: 28475705.

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(6) Submission ID#737026Pediatric Temporal Bone Disease Imaging from Anatomy to PathologySubmitter: Eman Mahdi – University of Missouri Hospital-Radiology department

Author(s)

Eman S. Mahdi, MD

Pediatric neuroradiologist

University of Missouri Hospital-Radiology department

Samiat Agunbiade

University of Missouri Hospital-Radiology department

Carlos Salinas

University of Missouri Hospital-Radiology department

Humera Ahsan

University of Missouri Hospital-Radiology department

Joseph Cousins

University of Missouri Hospital-Radiology department

Matthew Whitehead

Children's National Health System

Submission TopicHead and Neck

Abstract

Objectives:

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Pediatric temporal bone diseases vary from those of adults in terms of pathology and imaging characteristics.  The clinical signs and symptoms of most disease entities are non-specific. Radiological imaging plays an important role in narrowing the differential diagnosis and guiding clinical management. The purpose of this study is to provide a basic review of temporal bone embryology, anatomy, and pediatric ear pathology with emphasis on radiological findings.

 Learning points:

Basic ear embryology with illustrations are presented. Multisequence MRI and multiplanar CT are used to illustrate temporal ear anatomy. Pediatric ear disease entities are reviewed based on: external, middle and inner ear pathologies. Findings are demonstrated on CT/MRI imaging with correlative clinical images.

Table of content:

1. Ear (external, middle and inner) embryologic discussion and illustrations

2. Ear anatomy on temporal bone CT

3. Spectrum of most common diseases presented with CT/MRI images:

External auditory canal dysplasia

o Microtia/acrotia

Middle Ear

o Cholesteatoma (acquired and congenital)

o Otomastoiditis (+/- coalescent mastoiditis)

o Dehiscent jugular bulb/ aberrant internal carotid artery

o Cholesterol granuloma

Inner Ear

o Common cavity malformation

o Cochlear incomplete partition

o Large vestibular aqueduct

o Cochlear aplasia/hypoplasia

o Semicircular canal aplasia/hypoplasia

o Labyrinthitis ossificans

Discussion:

This exhibit reviews the embryology, anatomy and wide spectrum of pediatric ear diseases and discuss the importance of various imaging modalities in accurate diagnosis and management planning.

References:

Tortori-Donati P, Rossi A, Castillo M, Mukherji SK. Disorders of the Temporal Bone. Pediatr Neuroradiol. 2010:1361-1389. doi:10.1007/3-540-26398-5_32

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Grace S. Phillips, MD Sung E. LoGerfo, MD Michael L. Richardson, MD Yoshimi Anzai M. Temporal bone CT: anatomy and pathology. 2012.

Ravi, Reddy K Jitender, Vinay Kumar E C. NEUROLOGIC/HEAD AND NECK IMAGING CT and MR Imaging of the Inner Ear and Brain in Children with Congenital Sensorineural Hearing Loss. doi:10.1148/rg.323115073

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(7) Submission ID#740300Hereditary Hemorrhagic Telangiectasia and Spinal Arteriovenous Malformations: Case Report and Review

Submitter: Katherine Epstein – University of New Mexico

Author(s)

Katherine N. Epstein

Resident Physician

University of New Mexico

Danielle Sorte

Assistant Professor Radiology and Neurosurgery

University of New Mexico

Marc Mabray, MD

Assistant Professor

University of New Mexico

Submission TopicSpine

Abstract  

Objectives

To review spinal arteriovenous malformations that occur in patients with Hereditary Hemorrhagic Telangectasia (HHT), including their usual clinical presentations. To identify and describe the key imaging findings of spinal AVFs in the HHT population. Briefly describe and review treatment options and outcomes. To illustrate the importance of providing appropriate neurosurgical/neuro-interventional consultation for treatment and follow-up.

 

Learning Points

Spinal AVFs are typically seen in young children, with majority of HHT patients exhibiting pial AVFs; however, our case represents a rare dural AVF in a pediatric HHT patient. We will review the different types of spinal arteriovenous shunts.

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Pediatric patients typically present clinically with either acute para- or tetraplegia due to hematomyelia, progressive tetraplegia due to venous congestion, and/or subarachnoid hemorrhage.

Dural spinal arteriovenous fistula in an 8-year-old boy with known genetic HHT who presented to our institution will be reviewed.

Key and common imaging features of pial and dural spinal AVFs in HHT patients will be reviewed; including the surface location of the vascular malformation on the spinal cord, arterial connections (pial vs radicular arteries), venous connection, and other associated imaging features.  

Mainstay therapeutic strategies employed to treat spinal AVFs, such as endovascular embolization treatment, as in our pediatric patient, and surgical obliteration will be reviewed. Given the high mortality and morbidity of these vascular malformations, it is key to recognize the importance of treatment. The morphologic and clinical outcomes following treatment be reviewed.

 

Discussion

Incidence of HHT is approximately 1-5/10,000, with spontaneous recurrent nose bleeds (90%) representing the most common clinical manifestation of the disease. Approximately 10-20% of HHT patients have CNS involvement, consisting of brain and/or spinal arteriovenous fistulas, small and micro arteriovenous malformations. The abnormal vascular communications in the spine can lead to acute or progressive para- or tetraplegia or other acute neurological deficits. Given the high morbidity and mortality of these lesions therapeutic intervention is justified even in asymptomatic individuals, as long as the risk reduction of treatment outweighs the procedural morbidity. There are a few different treatment strategies of AVFs, with embolization most commonly utilized.

 

References

Brinjikji W, Nasr DM, Cloft HJ, et al. Spinal arteriovenous fistulae in patients with hereditary hemorrhagic telangiectasia: A case report and systematic review of the literature. Interventional Neuroradiology 2016; 22(3): 354-361.

Krings T, Chng SM, Ozanne A, et al. Hereditary haemorrhagic telangiectasia in children. Endovascular treatment of neurovascular malformations Results in 31 patients. Interv Neuroradiol 2005; 11: 13-23.

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(8) Submission ID#744661Juvenile Xanthogranuloma: Case Report and Literature ReviewSubmitter: Suely Ferraciolli – Inrad HC FMUSP

Author(s)

Suely F. Ferraciolli

Inrad HC FMUSP

Katia T. Nakacima, N/A, n/a

Radiology resident

Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo

Thiago A. Miranda

Radiology Fellow

Instituto de Radiologia - InRad HC FMUSP

Arthur M. Oliveira, n/a

InRad HCFMUSP

Lisa Suzuki, MD, PhD

Instituto da Crianca - Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo

Leandro T. Lucato

Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo

Claudia C. Leite

HCFMUSP

Submission TopicBrain - Other

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Abstract

Objective(s):

The purpose of this exhibit is to show a rare case of intracranial involvement of a non-Langerhans hystiocitosis, the Juvenile Xanthogranuloma. The patient is fourteen years old and has been followed over the years in our hospital, which enable us to see the evolution of dermal, orbital, choroid plexus and meningeal lesions. Also a literature review will be made.

 

Learning Points:

Juvenile xanthogranuloma, first described by Adamson in 1905, is a rare, usually self-limiting, histiocytic disorder of young children, most often presenting with cutaneous involvement of the head, neck, and trunk, which may be present at birth. The typical presentation is a solitary erythematous or yellowish, well-circumscribed skin papule. Generally it tends to have a good prognosis, but 4% of the patients may develop systemic disease, which can include viscera, bone and central nervous system lesions. Systemic disease may have a significantly increase of morbidity and mortality, especially in CNS involvement 

From 1980 to now, there are less then 50 reported cases of intracranial Juvenile Xanthogranuloma. The three most common locations are parenchyma, ventricular-cortex and dura. The most common imaging characterization is iso to hyper intensity on T1WI and iso to hypo intensity on T2WI, with post contrast enhancement.

To make an early diagnosis and correctly guide the adequate therapy, it is essential that neuroradiologists are aware of this rare disease.

 

Discussion:

Juvenile Xanthogranuloma is a non-Langerhans hystiocitosis that may have systemical involvement and in some rare cases CNS lesions.

The most common location for intracranial lesions are parenchymal, ventricular and dural.

The typical image of intracranial lesions are iso to hyper intensity on T1WI and iso to hypo intensity on T2WI, with contrast enhancement.

The knowledge of this disease is important to guide the correct diagnosis and treatment.

 

References:

 

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1. W. Chen, Y. Cheng, S. Zhou et al. Juvenile xanthogranuloma of central nervous system: Imaging of two cases report and literature review, Radiology of Infectious Diseases 4, 2017, 117-120.

2. D.T. Ginat, S.O. Vargas, V.M. Silvera, et al. Imaging Features of Juvenile Xanthogranuloma of the Pediatric Head and Neck, AJNR Am J Neuroradiol, 2016, 37:910 16.

3. Lalitha, M.Ch.B. Reddy, K.J. Reddy. Extensive Intracranial Juvenile Xanthogranulomas, AJNR Am J Neuroradiol, 2011, 32:E132E33.

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(9) Submission ID#744715Pediatric Upper Airway Obstruction: From Birth and BeyondSubmitter: Laura Mann – University of Rochester Medical Center

Author(s)

Laura Mann, MD

University of Rochester Medical Center

Shehanaz Ellika, MBBS, DM, MD

Assistant Professor

University of Rochester Medical Center

Jeevak Almast, MBBS, MD

Associate Professor

University of Rochester Medical Center

Edward Lin, MD, MBA

Associate Professor

University of Rochester Medical Center

Alok Bhatt, MD

Assistant Professor

Mayo Clinic

Submission TopicHead and Neck

Abstract

Objective: To present an overview of causes of pediatric upper airway obstruction from the neonatal period to adolescence including the pertinent anatomy and physiology, clinical findings, imaging findings and diagnostic pearls for each entity discussed.

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Learning Points:

Adequate nasal airflow requires a patent nasal passage, effective mucociliary function, absence of sinonasal inflammation and establishment of normal airflow dynamics, which is dictated by functional anatomy.

Pediatric airway obstruction can be caused by congenital, inflammatory, vascular, neoplastic, systemic and traumatic etiologies. Examples that will be presented include nasal pyriform aperture stenosis, choanal atresia, Pierre Robin sequence, basal encephalocele, enlarged vomeronasal organ, antrochoanal polyp, nasal glial heterotopia, nasal dermoids, tumors (benign and malignant) and vascular malformations.

Bilateral nasal obstruction presents early in the newborn with hypoxia during feeding.Unilateral airway obstruction often presents later in life.

The underlying etiology is typically diagnosed by pertinent clinical and imaging findings, which will be discussed for each entity.

Many etiologies are associated with other congenital anomalies and conditions. Choanal atresia and nasal pyriform aperture stenosis require further workup/imaging evaluation with brain MRI as they can be associated with CHARGE syndrome and holoprosencephaly, respectively.

 

Discussion:  Pediatric airway obstruction can present as acute life threatening respiratory distress, especially in neonates who are obligate nasal breathers. Alternatively, airway obstruction can present more subtly in older children with mouth breathing, stridor, snoring, epistaxis, nasal congestion or stuffiness.

 

The purpose of this poster is to present important causes of acute and chronic pediatric airway obstruction with relevant imaging pearls and appropriate imaging workup.  

 

References:

 

Hedlund G. Congenital frontonasal masses: developmental anatomy, malformations, and MR imaging. Pediatr Radiol2006; 36: 647662.

 

Smith MM, Ishman SL. Pediatric   Nasal   Obstruction. Otolaryngol Clin North Am. 2018 Oct;51(5):971-985.

 

Valencia M.P., and Castillo M.: Congenital and acquired lesions of the nasal septum: a practical guide for differential diagnosis. Radiographics 2008; 28: pp. 205-223.

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(10) Submission ID#745032Spectrum of Spinal Vascular Malformations Seen in the Pediatric PopulationSubmitter: Sara Boyd – Mayo Clinic

Author(s)

Sara K. Boyd, D.O.

Neuroradiology Fellow

Mayo Clinic

Giuseppe Lanzino, M.D.

Mayo Clinic

Waleed Brinjikji, M.D.

Mayo Clinic

Submission TopicSpine

Abstract

No disclosures.

Objectives:

1. Review anatomy, pathophysiology, and imaging appearance of spinal vascular malformations which present in the pediatric population: paraspinal arteriovenous fistula, intramedullary arteriovenous malformation, perimedullary arteriovenous malformation, perimedullary arteriovenous fistula, and Cobb syndrome.

2. Describe common clinical presentations of spinal vascular malformations in the pediatric population.

3. Discuss strategies in surgical and endovascular management.

Learning Points:

1. Paraspinal AVF: Fistula in the paraspinal soft tissues with venous drainage into epidural or paraspinal veins.

2. Intramedullary AVM: Nidus type AVM located within the cord parenchyma fed by anterior or posterior spinal arteries with drainage into medullary and/or pial veins.

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3. Perimedullary AVM: Nidus type AVM located on the cord surface without parenchymal component fed by anterior or posterior spinal arteries with drainage into medullary or pial veins.

4. Perimedullary AVF: Direct fistula between a hypertrophied spinal artery and hypertrophied spinal vein on the spinal cord surface.

5. Cobb Syndrome: Arteriovenous malformation involving an entire spinal segment with intramedullary, intradural, epidural, osseous, and soft tissue components.

Discussion:

     Common spinal vascular malformations in the adult population (i.e. dural or epidural AVF) are exceedingly rare in the pediatric population.  Pediatric patients are more likely to present with rarer vascular malformations listed above. It is imperative to recognize the association between pediatric spinal arteriovenous shunts and genetic anomalies, most commonly hereditary hemorrhagic telangiectasia and spinal arteriovenous metameric syndrome. Less common nonhereditary conditions include Neurofibromatosis type I, Klippel-Trenaunay-Weber syndrome, and collagen disorders1,2.  Afflicted children have a higher incidence of presenting with hemorrhage - subarachnoid hematoma or hematomyelia with symptomatic sequelae of cord compression1. Rapidly shunting arteriovenous paraspinal arteriovenous fistulas uniquely can lead to cardiac failure1,3. 

     While MRI provides a noninvasive screening examination, selective spinal digitally subtracted angiography (DSA) remains the gold standard for determining angioarchicture1 and aids in lesion classification. Spinal DSA provides the anatomic detail needed to guide endovascular pretreatment planning2. Spinal arteriovenous fistulas have a higher rate in achieving complete post-therapy cure compared to spinal arteriovenous malformations2, predominately due to less complex anatomy. Established endovascular embolization techniques include coils, balloons, liquid glue, and polyvinyl alcohol particles2.

References:

1Davagnanam I, Toma AK, Brew S. Spinal arteriovenous shunts in children. Neuroimaging Clin N Am. 2013;23(4):749-56.

2Cullen S, Krings T, Ozanne A, Alvarez H, Rodesch G, Lasjaunias P. Diagnosis and endovascular treatment of pediatric spinal arteriovenous shunts. Neuroimaging Clin N Am. 2007;17(2):207-21.

3Kitagawa RS, Mawad ME, Whitehead WE, Curry DJ, Luersen TG, Jea A. Paraspinal arteriovenous malformations in children. J Neurosurg Pediatr. 2009;3(5):425-8.

 

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(11) Submission ID#745529Development of a Chiari I Malformation in an Infant with Schizencephaly and Polymicrogyria and a Previously Normal Posterior FossaSubmitter: cAMILA DE LA BARRA – HOSPITAL PADRE HURTADO

Author(s)

CAMILA F. DE LA BARRA

CLÍNICA ALEMANA DE SANTIAGO, HOSPITAL PADRE HURTADO

VALERIA SCHONSTEDT

CLÍNICA ALEMANA DE SANTIAGO, HOSPITAL LUIS CALVO MACKENNA

XIMENA STECHER

Neuroradiologist.Assistant Professor of Radiology, Facultad de Medicina Clinica Alemana

CLÍNICA ALEMANA DE SANTIAGO

Submission TopicBrain - Developmental

Abstract

Objetive:

To show a case of development of a Chiari I malformation in an infant with schizencephaly and polymicrogyria and a previously normal posterior fossa.

Learning Points:

1. Key Diagnostic Features of Chiari I malformation

2. Clinical presentation of Chiari I malformation

3. Possible causes of development of a Chiari I malformation in an infant with schizencephaly and polymicrogyria

4. Treatment of Chiari I malformation

Discussion:

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Chiari I deformity is characterized by the descent of at least 5 mm of the cerebellar tonsils below the foramen magnum, due to a disproportion between the size and content of the posterior fossa. Other relevant radiologic signs are a peg-like morphology of the tonsils (pointed rather than rounded), sulci vertically oriented, and crowding of the medulla by the tonsils in an axial image through the foramen magnum. The most common symptoms in children are occipital headaches and/or cervical pain (27-70%), usually brief and related to Valsalva-type maneuvers (cough, sneezing). Scoliosis is present in 18-50% of cases, usually associated with underlying syringohydromyelia,  holocord up to 44%. Newborns and infants often present with irritability and crying attacks, other signs include apneic episodes and oropharyngeal dysfunction.

In the best of our knowledge, there are no other published cases showing a patient with an initial normal posterior fossa developing a Chiari I malformation. We hypothesize that in this child with schizencephaly and polymicrogyria the Chiari I malformation became evident in the follow-ups, since the posterior fossa parenchyma grows faster that the corresponding skull during the first 2 years of life. A brain overgrowth syndrome secondary to a mutation in the PI3K/AKT/mTOR pathway could lead to a new onset Chiari I, but this patient has not a dysplastic megalencephaly.

Surgical treatment is indicated when syringohydromyelia is present. In absence of syrinx it is sometimes indicated in cases of headache attributable to the Chiari I malformation (occipital o high cervical, brief, and related to Valsalva-type maneuvers) or neurologic deficits. Craniocervical decompression is the most commonly performed procedure, with or without duraplasty.

References:

1. Pindrik J, Johnston Jr JM. Clinical Presentation of Chiari I Malformation and Syringomyelia in Children. Neurosurg Clin N Am 2015;26:509514.

2. Rocque B, Oakes W. Surgical Treatment of Chiari I Malformation. Neurosurg Clin N Am 2015;26:527531.

3. Mirzaa G, Conway R, Graham JMJr, et al. PIK3CA-Related Segmental Overgrowth. 2013 Aug 15. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. 

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(12) Submission ID#749671Pediatric Neurovascular Imaging Techniques: Choosing Wisely

Submitter: Elaine Tanhehco – Presence St. Francis Hospital

Author(s)

Elaine Tanhehco, n/a

Diagnostic Radiology Resident

Presence St. Francis Hospital

Donald R. Cantrell

Northwestern University

Susan Palasis, MD

Division Chief, Pediatric Neuroradiology

Lurie Children's Hospital of Chicago

Submission TopicImaging Techniques

Abstract

Objective: This exhibit will provide an overview of various pediatric neurovascular imaging methods, as well as guidance for choosing the optimal radiologic exam based on the pathology of interest. Both well-established and experimental techniques within the major modalities of digital subtraction angiography (DSA), computed tomography angiography (CTA) and magnetic resonance angiography (MRA) will be discussed. We will focus on the use of these exams to evaluate vessel morphology, configuration, and flow.

Learning points: 1) Describe and differentiate the conventional methods and submethods of DSA  (conventional and 4D), CTA (conventional, dual energy, and 4D), and MRA (time-of-flight, gadolinium-enhanced, 4D, and ferumoxytol-enhanced); 2) Differentiate the aforementioned methods by best indication, risks, and benefits; 3) Introduce experimental techniques under development for neurovascular imaging.

Discussion: High-quality neurovascular imaging is central to the diagnosis and treatment of a multitude  of pediatric neuropathologies. The ideal technique can vary based on patient age, pathology under investigation, and urgency with which imaging must be obtained.  The benefits of advanced imaging must be balanced by considerations such as length of exam, need for anesthesia, use of contrast and radiation exposure. Other factors, including the availability of equipment and technical expertise, can also influence the study of choice,

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necessitating a knowledge of alternative imaging techniques in situations where the optimal imaging method may not be immediately available. Experimental techniques, for instance, 4D CTA and MRA with ferumoxytol contrast, may provide additional options for pediatric neurovascular imaging in the near future.

References:

1. Lin A, Rawal S, Agid R, Mandell DM. Cerebrovascular imaging: Which test is best? Neurosurgery 2018; 83:518.

2. Aviv RI, Benseler SM, DeVeber G, Silverman ED, Tyrrell PN, Tsang LM, Armstrong D. Angiography of primary central nervous system angiitis of childhood: conventional angiography versus magnetic resonance angiography at presentation. AJNR Am J Neuroradiol 2007;28:9-15.

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(13) Submission ID#749733Brain MRI Appearances in Pediatric Opioid Toxicity

Submitter: Michael Jurkiewicz – Michael Jurkiewicz

Author(s)

Ian Y. Chan, MD

Diagnostic Radiology Resident

London Health Sciences Centre

Michael T. Jurkiewicz, MD, PhD

Neuroradiologist

London Health Sciences Centre

Submission TopicBrain - Other

Abstract

Objectives:1. Outline the usages and metabolism of opioids

2. Characterize brain MRI findings in patients with opioid toxicity

Learning Points:

1. Discuss the metabolic pathway of opioids

2. Specifically review the mechanism of action and metabolism of morphine

3. Demonstrate the brain MRI appearance of toxic leukoencephalopathy in opioid overdose

 

Discussion:

Opioids are synthetic narcotics with opiate-like actions and are commonly used medications for treating cancer, chronic noncancer, and postoperative pain. With the current epidemic of opioid addiction, use and misuse has become more widespread than ever. Increased awareness of these medications and the imaging appearance in opioid overdose has rapidly become crucial for neuroradiologists.

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Opioid metabolism occurs primarily in the liver, which produces enzymes promoting phase 1 (modification reactions) and phase 2 (conjugation reactions) metabolism. There is variation with respect to how different opioids are metabolized, with morphine predominantly undergoing phase 2 glucuronidation while codeine or fentanyl are metabolized through the phase 1 CYP pathway. Since morphine is a potent activator of the mu-opioid receptor, it is less commonly used in outpatient settings compared to safer agents such as codeine.

 

Toxic leukoencephalopathy is a rare neurologic condition occurring as a result of excessive opioid exposure. We present a case of toxic leukoencephalopathy in a pediatric patient secondary to morphine overdose. Neuroimaging findings, although not pathognomonic, are distinctive and should be promptly recognized in order to alert the physicians involved to initiate appropriate management. Brain CT in the acute phase (Figure A) demonstrates bilaterally symmetric hypoattenuation in the cerebral white matter as well as the cerebellum, and diffuse effacement of the CSF spaces. Brain MRI early in the process (Figure B and C) demonstrates bilaterally symmetric diffusion restriction with associated T2 hyperintensity in the basal ganglia, and diffuse involvement of the cerebral white matter and cerebellum. There is associated mass effect manifest by diffuse sulcal effacement and effacement of the fourth ventricle, with mild enlargement of the supratentorial ventricles. Petechial hemorrhage is present throughout the cerebellum and worsens over the next few days. Brain MRI in the chronic stages (Figure D) demonstrates encephalomalacia in the previously involved areas, most prominently in the cerebellum. With this characteristic pattern of brain injury, neuroradiologists must maintain a high index of suspicion for toxic leukoencephalopathy, a potentially devastating but treatable condition.

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(14) Submission ID#750988Choroid Plexus Carcinoma: A Brief Imaging ReviewSubmitter: Mayada Dabajeh – Beaumont Health

Author(s)

Mayada Dabajeh, MD

Diagnostic Radiology Resident

Beaumont Health

Alyssa Kirsch, MD

Diagnostic Radiology Resident

Beaumont Health

Marie Tominna, DO

Diagnostic Radiology Resident

Beaumont Health

Ay-Ming Wang, MD

Beaumont Health

Anant Krishnan

Beaumont Health, Royal Oak

Submission TopicBrain - Tumors

Abstract OBJECTIVES 

Present cases of choroid plexus carcinoma in order to familiarize the radiologist of this rare malignant neoplasm.

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LEARNING POINTS

Define the choroid plexus

List various pathology involving the choroid plexus

Become familiar with choroid plexus carcinoma  

DISCUSSION

Choroid plexus carcinoma (CPC) is a rare malignant neoplasm classified as a WHO grade III lesion. It mainly occurs in young children, with the lateral ventricle being the most common location. Patients present with symptoms of hydrocephalus, either from overproduction of CSF or secondary to obstruction. The mass originates from the choroid plexus epithelium, either spontaneously or rarely from malignant transformation of a choroid plexus papilloma. This lesion is much less common than choroid plexus papilloma, with a ratio of 1:5. Prognosis is poor, with the 5-year survival rate at approximately 40%. CPC are isodense to hyperdense on CT, isointense on T1, and hyperintense on T2. Unfortunately, imaging features alone cannot differentiate between choroid plexus papilloma and choroid plexus carcinoma. However, features that suggest the latter are parenchymal invasion, irregular contours and increased heterogeneity, due to calcifications, hemorrhage, or necrosis. Choroid plexus carcinomas tend to disseminate within the CSF, therefore imaging of the entire brain and spine is recommended.

REFERENCES

Jaiswal S, Vij M, et al. Choroid Plexus Tumors: A clinic-pathological and neuro-radiological study of 23 cases. Asian Journal of Neurosurgery. 2013;8(1): 29-35. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3667458/

Smith AB, Smirniotopoulos JG, et al. From the Radiologic Pathology Archives: Intraventricular Neoplasms: Radiologic-Pathologic Correlation. Radiographics. 2013. https://pubs.rsna.org/doi/full/10.1148/rg.331125192

Yousem D, Grossman R. The Requisites: Neuroradiology, 3rd Philadelphia, PA: Mosby Elsevier; 2010.

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(15) Submission ID#751017Case Based Review of Diffusion-weighted MR Imaging in Perinatal Arterial Ischaemic StrokeSubmitter: Deepsha Agrawal – County Durham and Darlington NHS Foundation Trust

Author(s)

Deepsha Agrawal

Foundation Doctor

County Durham and Darlington NHS Foundation Trust

Dinakaran Jayachandran

Consultant Paediatrician

Darlington Memorial Hospital

Anubha Sharma

Darlington Memorial Hospital

Submission TopicBrain - Cerebrovascular

Abstract

Objectives: 

To present a case of Perinatal Arterial Ischaemic Stroke (PAIS). 

To understand the role of diffusion-weighted MR imaging (DWI) in PAIS. 

Case:

A term baby with no antenatal risk factors was born by emergency C-section due to unexplained fetal tachycardia. The baby developed focal seizures on right side of the body at 2 hours of birth. Subsequently, she had multiple episodes of prolonged focal seizures between 2 and 12 hours of birth requiring with intravenous anti-epileptic drugs. An MRI head was performed at 23 hours and the DWI (Fig 2) demonstrated diffusion restriction of left parieto-occipital lobe with corresponding drop on apparent diffusion coefficient (ADC) mapping (Fig 1), in keeping with left cerebral acute infarct.  

Discussion:

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PAIS are cerebrovascular events secondary to arteriopathic, cardiac and haematological pathology, occurring between 20 weeks of fetal life through to the 28th postnatal day. Most commonly, this involves the middle cerebral artery territory and presents with focal seizures at 24-48 hours of life. MR imaging is the neuroradiologic investigation of choice. 

Cowan et al. were the first to describe that the extent and conspicuity of the early signal intensity (SI) change was greater with diffusion-weighted than with conventional imaging, [1]. DWI plays an important role in early diagnosis of PAIS with an increase in ADC values during the first week, therefore enabling detection of ischaemic lesions in the acute phase, [2]. 

In pathological processes immediately after an infarction, unchecked influx of cations and anions which in turn drives influx of water, results in cytotoxic edema. This water content can be assessed within hours as increased SI on DWI and as decreased SI on the derived ADC map, [2]. Moreover, motor disabilities can be predicted based on the involvement of the corticospinal tracts on DWI, a phenomenon referred to as pre-Wallerian degeneration.

Learning Points: 

Consider PAIS in the differential diagnosis of refractory neonatal focal seizures. 

Diffusion weighted MRI is important for the early diagnosis of PAIS.

Key References: 

1. Cowan FM, Pennock JM, Hanrahan JD, Manji KP, Edwards AD (1994) Early detection of cerebral infarction and hypoxic ischemic encephalopathy in neonates using diffusion-weighted magnetic resonance imaging. Neuropediatrics 25: 172175. 

2. van der Aa N, Benders M, Vincken K, Groenendaal F, de Vries L. The Course of Apparent Diffusion Coefficient Values following Perinatal Arterial Ischemic Stroke. 2019.

 

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(16) Submission ID#751610MRA Findings in a Patient with ACTA2 MutationSubmitter: Amrutha Ramachandran – Jackson Memorial Hospital

Author(s)

Amrutha Ramachandran

Jackson Memorial Hospital

Muthiah Nachiappan

Jackson Memorial Hospital

Gaurav Saigal

Jackson Memorial Hospital

Submission TopicBrain - Cerebrovascular

Abstract

Objectives:

- To review the neuroradiological findings in patients with ACTA2 mutation.- To describe the clinical and imaging features in a pediatric patient with this mutation who presented to our hospital.

Learning points:

-ACTA2 mutation is a cause of multisystem smooth muscle dysfunction which can result in cerebral arteriopathy, increasing the risk of developing vaso-occlusive strokes.-It is characterized by a straight course of intracranial arteries, dilation of the proximal internal carotid arteries, and stenosis of the terminal internal carotid arteries. Associated brain malformations have also been described. -This entity is often misdiagnosed as Moyamoya vasculopathy. However, it lacks the typical lenticulostriate collateral vasculature.

Discussion:

We present a case of a 9 year old girl with a previous diagnosis of moya moya who underwent an MRI and MRA of the brain. The MRA revealed diffuse straightening and elongation of bilateral intracranial vessels.

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Additionally, there was moderate narrowing of bilateral supraclinoid internal carotid arteries and mild narrowing of bilateral A1 and M1 segments of the ACA and MCA respectively, without obvious lenticulostriate collaterals. Numerous areas of confluent T2 hyperintensity were noted in the deep white matter on the MRI suggesting prior ischemia. Further chart review revealed that the patient had an ACTA2 mutation with aortic and coronary aneurysms, also explaining the morphology of the intracranial vasculature.

 Alpha-smooth-muscle actin, encoded by ACTA2, is the actin isoform that predominates in vascular smooth-muscle cells. Missense mutations in ACTA2, such as Arg179His, result in smooth muscle contractile dysfunction. The resultant vascular phenotype exhibits medial fibrosis, vascular wall thickening, disorganization of the internal lamina, and proliferation of smooth-muscle cells, which supposedly renders the arteries more rigid and less deformable. Mutations in ACTA2 have also been associated with brain malformations, which are theorized to be secondary to deformation of the brain related to the mechanical interaction with rigid arteries during embryogenesis. 

 References:

Amans MR, Stout C, Fox C, et al. Cerebral arteriopathy associated with Arg179His ACTA2 mutation. BMJ Case Rep. 2013;2013:bcr2013010997. doi:10.1136/bcr-2013-010997

Cuoco JA , Busch CM, Klein BJ, et al. ACTA2 Cerebral Arteriopathy: Not Just a Puff of Smoke. Cerebrovasc Dis. 2018;46(3-4):161-171. doi: 10.1159/000493863

Munot P, Saunders DE, Milewicz DM, et al. A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations. Brain 2012:135(Pt 8):250614 doi:10.1093/brain/aws172 pmid:22831780

D'Arco F, Alves CA, Raybaud C, et al. Expanding the Distinctive Neuroimaging Phenotype of ACTA2 Mutations. AJNR Am J Neuroradiol. 2018 Nov;39(11):2126-2131. doi: 10.3174/ajnr.A5823

 

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(17) Submission ID#752635Pathologic Spectrum of Neonatal T1 Basal Ganglia Bright SpotsSubmitter: Marie Tominna – Beaumont Hospital

Author(s)

Marie Tominna, DO

Diagnostic Radiology Resident

Beaumont Health

Ay-Ming Wang, MD

Beaumont Health

Mayada Dabajeh, MD

Diagnostic Radiology Resident

Beaumont Health

Anant Krishnan

Beaumont Health, Royal Oak

Submission TopicBrain - Other

Abstract Objective

Briefly review various causes of neonatal abnormal increased T1 hyperintensity within the basal ganglia

Learning points

Have an understanding of normal MR signal characteristics of the neonatal brain

Become familiar with various etiologies which can result in neonatal T1 basal ganglia hyperintensity

Understand key findings & features that will aid in differentiating between the entities

Discussion:

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The neonatal brain white matter maturation is evident on T1-weighted imaging which is used within the first 6 months. T2-weighted imaging is primarily used to evaluate white matter maturation after 6 months. A normal brain at birth demonstrates high T1 signal within the posterior half of the posterior limb of the internal capsule, ventral lateral thalami, medulla, dorsal midbrain, as well as superior and inferior cerebellar peduncles. At the end of the first month of life, increased T1 signal is seen in the deep cerebellar white matter. T1 hyperintensity within the basal ganglia in the neonatal period can be due to various pathologies. A common cause is hypoxic-ischemic encephalopathy (HIE) which has two dominant patterns. The central pattern results in T1 hyperintensity in the basal ganglia and thalamus, occurring in more severe hypoxic events with a shorter duration, versus the peripheral pattern which occurs in mild cases of hypoxia of a prolonged duration. Restricted diffusion may indicate a poor prognostic indicator. Additional causes of T1 hyperintensity include infectious and metabolic etiologies. Hyperbilirubinemia will demonstrate increased T1 signal within the globus pallidus and putamen. Clinical clues of kernicterus include elevation of unconjugated bilirubin and symptoms such as hypotonia, poor suckling, or a high-pitched cry.  Infectious etiologies including Group B Streptococcus meningitis can also result in increased T1 hyperintensity in the basal ganglia, which may ultimately be a result of underlying ischemic insult.

References:

Choi SY, Kim JW, Ko JW, Lee YS, Chang YP. Patterns of ischemic injury on brain images in neonatal group B Streptococcal meningitis. Korean J Pediatr. 2018;61(8):245252. 

Ghei SK, Zan E, Nathan JE, et al. MR Imaging of Hypoxic-Ischemic Injury in Term Neonates: Pearls and Pitfalls. RadioGraphics. 2014;34(4):1047-1061.

Hegde AN, Mohan S, Lath N, Lim CCT. Differential Diagnosis for Bilateral Abnormalities of the Basal Ganglia and Thalamus. RadioGraphics. 2011;31(1):5-30.

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(18) Submission ID#752993Simplified Approach to Closed Spinal Dysraphisms: A Pictorial ReviewSubmitter: Michelle Roytman – Weill Cornell Medicine - New York Presbyterian Hospital

Author(s)

Michelle Roytman

Weill Cornell Medicine - New York Presbyterian Hospital

Linda Heier

Weill Cornell Medicine - New York Presbyterian Hospital

Elizabeth K. Weidman, MD

Assistant Professor of Radiology

Weill Cornell Medicine - New York Presbyterian Hospital

Submission TopicSpine

Abstract

Objectives

To provide a simplified algorithmic approach for evaluating closed spinal dysraphisms.

Learning Points

Pictorial review of closed spinal dysraphisms, including a simplified imaging-based approach for differentiating dysraphisms.

Describe differential considerations (e.g., teratoma) and their key distinguishing features.

Recognize critical diagnostic features to include in imaging reports on initial and follow-up imaging.

Review considerations for image protocols.

Discussion

Spinal dysraphism is a general term describing congenital abnormalities involving the spine and spinal cord, which may be broadly categorized into those with an intact skin cover, closed spinal dysraphism, and those without an intact skin cover, open spinal dysraphism. Closed spinal dysraphisms may be further categorized

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using an imaging-based approach based on the presence or absence of a subcutaneous mass, major elements involved in the abnormality, and presence of gross fat (Figure A). This educational exhibit provides a systematic, imaging-based approach for diagnosing closed spinal dysraphisms, including lipomyelocele, lipomyelomeningocele (Figure B), meningocele, terminal myelocystocele, intradural lipoma, filar lipoma, tight filum terminale, persistent terminal ventricle, dorsal dermal sinus (Figure C), neuroenteric cyst, diastematomyelia and caudal agenesis. Differential considerations, such as sacral teratoma (Figure D), will be described. Important findings to include in imaging reports on initial and follow-up imaging (e.g., involvement of nerve roots on preoperative studies and evaluation for re-tethering and epidermoids on post-operative images), as well as tips for protocoling cases will be reviewed.

References

1. Kumar J., Afsal M., Garg A. (2017, April). Imaging spectrum of spinal dysraphism on magnetic resonance: A pictorial review. World Journal of Radiology, Vol. 9(4), 178-190. https://doi.org/10.4329/wjr.v9.i4.178

2. Rufener, S. L., Ibrahim, M., Raybaud, C. A., & Parmar, H. A. (2010, March). Congenital spine and spinal cord malformations - Pictorial review. American Journal of Roentgenology, Vol. 194. https://doi.org/10.2214/AJR.07.7141

3. Yu, J. A., Sohaey, R., Kennedy, A. M., & Selden, N. R. (2007). Terminal myelocystocele and sacrococcygeal teratoma: A comparison of fetal ultrasound presentation and perinatal risk. American Journal of Neuroradiology, 28(6), 10581060. https://doi.org/10.3174/ajnr.A0502

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(19) Submission ID#753155Applications of Machine Learning in Neuroimaging of EpilepsySubmitter: Bo Gong – University of British Columbia

Author(s)

Bo Gong, MD, MSc

Resident

University of British Columbia

Kristen W. Yeom, MD

Pediatric Neuroradiologist

Stanford University

Mark Halverson, MD

Pediatric Neuroradiologist

University of British Columbia

Sanjay Prabhu, MBBS, FRCR

Pediatric Neuroradiologist

Harvard Medical School

Submission TopicBrain - Epilepsy

Abstract

Objectives:

Summarize common machine learning / deep learning techniques and concepts.

Review existing machine learning applications in the neuroimaging of epilepsy.

Discuss future machine learning applications in the neuroimaging of epilepsy.

Learning Points: The rapid advancement of artificial intelligence has expanded machine learning applications, including deep learning approaches to medical imaging analytics, including in the field of radiology.  This educational poster will discuss the existing and potential applications of machine learning in pediatric epilepsy imaging.

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We will first review common machine learning techniques such as support vector machines and deep learning methods such as convolutional neural networks commonly applied to imaging, and different types of models that are clinically applicable in epilepsy.  We will then summarize existing machine learning applications in the neuroimaging of epilepsy across multiple modalities including structural and functional magnetic resonance imaging (MRI), magnetoencephalography (MEG), positron emission tomography (PET) and singlephoton emission computed tomography (SPECT).  These applications have allowed the analysis of anatomical structures and network connectivity, diagnosis of epilepsy, prediction of clinical outcome, characterization of focal cortical lesions, detection and lateralization of temporal lobe epilepsy, surgical planning and prediction of surgical outcome.  Lastly, we will discuss future research directions, such as multimodal analysis incorporating structural and functional imaging, radiomics of genetic causes of epilepsy, model generalizability improvement and workflow optimization.  In particular, the integration of imaging and non-imaging data (such as EEG, and mining of neurology and radiology reports by natural language processing) could contribute to more consistent and robust surgical planning and management of medically resistant epilepsy.

Discussion: Machine learning applications in the neuroimaging of epilepsy have shown a promising potential in the medical and surgical management of epilepsy.  This poster discusses the technical background, existing research and future directions in this exciting field.

References:

1. Tang A, Tam R, Cadrin-Chenevert A, et al. Canadian Association of Radiologists White Paper on Artificial Intelligence in Radiology. Can Assoc Radiol J. 2018 May;69(2):120-135.

2. Abbasi B, Goldenholz DM. Machine learning applications in epilepsy. Epilepsia. 2019 Sep. doi: 10.1111/epi.16333.

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(20) Submission ID#753208Lipoid Proteinosis, a Rare Genetic Disorder, in a 6-year-old with Bilateral Amygdala Calcifications

Submitter: Julia Cameron-Morrison – Wake Forest Baptist Health

Author(s)

Julia Cameron-Morrison, DO

Neuroradiology fellow

Wake Forest Baptist Health

Michael Zapadka, DO

Wake Forest Baptist Health

Submission TopicBrain - Developmental

Abstract

Objectives 

This educational exhibit provides an image-rich case based discussion of the nearly pathognomonic imaging features of lipoid proteinosis (LP), a rare genetic condition. As in this case, diagnosis of the genetic disorder is often elusive prior to brain imaging performed for other reasons. After reviewing the exhibit the reader will be able to identify the classic imaging features, as well as have a working knowledge of common physical exam findings. The underlying pathophysiology and histologic changes resulting in the classic imaging and physical exam features will also be discussed. 

Learning points 

Six-year-old male with HSV gingivostomatitis underwent brain CT/MRI following mental-status change. Imaging demonstrated bilateral amygdala calcifications, a pathognomonic imaging feature of LP. Additional history was elicited, along with focused physical exam and genetic testing at the recommendation of the radiologist given pathognomonic amygdala calcifications, which confirmed a homozygous variant ECM1 gene, diagnostic of lipoid proteinosis.

Lipoid Proteinosis (LP) or Urbach-Wiethe disease is a rare autosomal recessive disorder with less than 500 cases documented in the medical literature.  An ECM1 gene mutation on chromosome 1q21 results in abnormal infiltration of the affected tissues by amorphous hyaline material.2 Patients often present at birth or in early infancy with a soft cry due to infiltration of the larynx and involvement of the skin of the face and mucous membranes of the upper aerodigestive tract. Approximately 50% of patients develop moniliform

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blepharosis, pale yellow papules along the free margins of the eyelids. Cerebral involvement is seen in more than 50% of individuals.1 

Classic imaging findings include bilateral symmetric intracranial calcifications with a predilection for medial temporal lobes including the amygdala, periamygdaloid gyri and anterior temporal horns.1 Amygdala calcifications demonstrate characteristic curvilinear hyperattenuated horn-shaped appearance on CT.1  GRE-t2* and susceptibility-weighted MRI sequences demonstrate the calcifications especially well and can be utilized to identify early subtle findings. Amygdala calcifications seen in approximately 50% of cases are considered pathognomonic for LP1, which can suggest a definitive diagnosis in what can otherwise be a confusing clinical presentation.

Summary 

While rare, the classical clinical, dermatologic and radiographic findings associated with LP are well documented. This case demonstrates many of the common imaging and physical exam features seen in LP and offers an educational opportunity to improve the awareness and recognition of this unique genetic disorder.

References

1. Gonçalves, et al. AJNR Am J Neuroradiol. 2010;31(1):88-90.

2. Hamada, et al. Hum Mol Genet. 2002;11(7):833-40.

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(21) Submission ID#753552Review of Early Brain MRI Findings in Childhood Cerebral X-linked AdrenoleukodystrophySubmitter: Zachary Miller – University of Minnesota Medical School

Author(s)

Zachary D. Miller

Medical Student

University of Minnesota Medical School

Alexis Swenson, MD

University of Minnesota Medical School

David Nascene, MD

University of Minnesota Medical School

Submission TopicBrain - Developmental

Abstract

Objectives

To teach neuroradiologists how to better recognize early findings of childhood cerebral X-linked adrenoleukodystrophy (CCALD) on brain MRI. 

Learning Points

Review purpose of screening MRIs for patients with X-linked adrenoleukodystrophy. 

Recognize common and uncommon brain MRI findings of early CCALD. 

Recognize common pitfalls.

Discussion 

Patients with adrenoleukodystrophy routinely undergo screening brain MRI to evaluate for early evidence of cerebral involvement. Many patients who develop CCALD can be treated with hematopoietic stem cell transplant or gene therapy. Lesions of CCALD commonly arise in the splenium of the corpus callosum near the midsagittal plane. They may also arise in the other regions of the corpus callosum or in other white matter tracts, such as in the brainstem or internal capsule. Early findings of CCALD are frequently missed on MRIs. Terminal zones of myelination may appear similar to CCALD lesions, leading to a falsely positive study.

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Lesions may abut structures of similar intensity, leading to a falsely negative study. Small lesions may only be visible on certain sequences in certain planes. 

References

Moser HW, Loes DJ, Melhem ER, Raymond GV, Bezman L, Cox CS, Lu SE. X-Linked adrenoleukodystrophy: overview and prognosis as a function of age and brain magnetic resonance imaging abnormality. A study involving 372 patients. Neuropediatrics. 2000 Oct;31(5):227-39.

Van Haren K, Engelen M, Wolf N. Measuring early lesion growth in boys with cerebral demyelinating adrenoleukodystrophy. Neurology. 2019 Apr;92(15):691-693.

Miller ZD, Swenson A, Nascene D. Unpublished data. 2019. 

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(22) Submission ID#754281Alexander Disease - Infancy to AdolescenceSubmitter: Jeremy Ford – NewYork-Presbyterian/Weill Cornell Medical Center

Author(s)

Jeremy Ford, MD, MBA

Radiology Resident

NewYork-Presbyterian/Weill Cornell Medical Center

Joseph Comunale

Associate Professor or Clinical Radiology

Weill Cornell Medical Center

Submission TopicBrain - Epilepsy

Abstract

Objective

To describe the unique clinical and imaging features of Alexander Disease (AxD) and its subtypes.

Learning Points

AxD is an autosomal dominant leukodystrophy with a characterstic signal and enhancement pattern on MRI.

Type I includes neonatal and infantile subtypes while type II includes juvenile and adult subtypes, each with different clinical and imaging features.[i]i

Discussion

AxD leukodystrophy is considered autosomal dominant, however, the majority of cases are sporadic due to de novo mutations in the glial fibrillary acidic protein (GFAP). This leads to deposition of Rosenthal fibers within the deep and periventricular white matter as well as the brainstem,[ii]ii causing a characteristic signal and enhancement pattern on MRI.[iii]iii 

A genetically confirmed case of neonatal AxD at our institution exemplified these features. Postnatally, the patients parents were informed that the patient could have a white matter disease," yet intractable seizures did not manifest until 2 months of age. A subsequent MRI at our institution revealed periventricular, bifrontal predominate T2 hyperintensity on FLAIR with involvement of the caudate nuclei (A) and overlapping areas of hyperenhancement as demonstrated on pre- (C) and postcontrast (D) T1-weighted images. Edema and

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enhancement involved the ependyma, predominantly of the temporal and occipital horns bilaterally.  Tectal edema and enlargment led to a thumbprinting appearance on sagittal images (B), causing narrowing of the cerebral aqueduct without obstruction. In both the neonatal and infantile forms of AxD (Type I), this progresses to obstructive hydrocephalus and megalencephaly.

The infantile subtype, which is most common, features similar imaging findings to neonatal AxD but with the addition of hyperreflexia and ataxia. Type II AxD exhibits a later age of onset, as late as the mid-teens or adulthood, with less cerebral involvement and more bulbospinal involvement. The juvenile subtype of Type II AxD may present with both cerebral and bulbospinal disease. Type I AxD patients often have a poor prognosis, rarely surviving past age 6, whereas Type II is more indolent.

References

[i]Graff-Radford J, Schwartz K, Gavrilova RH, Lachance DH, Kumar N. Neuroimaging and clinical features in type II (late-onset) Alexander disease. Neurology. 2014 Jan 7;82(1):49-56.

[ii]Wippold FJ, Perry A, Lennerz J. Neuropathology for the neuroradiologist: Rosenthal fibers. American journal of neuroradiology. 2006 May 1;27(5):958-61.

[iii]Van Der Knaap MS, Naidu S, Breiter SN, Blaser S, Stroink H, Springer S, Begeer JC, Van Coster R, Barth PG, Thomas NH, Valk J. Alexander disease: diagnosis with MR imaging. American Journal of Neuroradiology. 2001 Mar 1;22(3):541-52.

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(23) Submission ID#754382A^2T/RT: Atypical Presentations of Atypical Teratoid/ Rhabdoid TumorSubmitter: Meghan McClure – University of Nebraska Medical Center

Author(s)

Meghan E. McClure, M.D.

Radiology Resident

University of Nebraska Medical Center

Terri Love, M.D.

Assistant Professor of Radiology

Children's Hospital & Medical Center

Mark Puccioni, M.D.

University of Nebraska Medical Center

Andria M. Powers, M.D.

Assistant Professor of Radiology

Childrens Hospital & Medical Center

Submission TopicBrain - Tumors

Abstract

OBJECTIVES:  

Review pathology, demographics, features, and imaging appearance of atypical teratoid/ rhabdoid tumor (AT/RT). 

Through a series of three unusual cases, demonstrate atypical manifestations of AT/RT and discuss differentiating features that may help to suggest a diagnosis of AT/RT.     

LEARNING POINTS:  

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Atypical teratoid/ rhabdoid tumor (AT/RT) is a rare malignant primary CNS tumor usually presenting in early childhood (1-2% of all pediatric brain tumors). AT/RTs are typically heterogeneous intracranial tumors with decreased diffusivity, avid enhancement, and propensity for subarachnoid spread; roughly half are infratentorial. They are composed of prominent rhabdoid cells mixed with poorly differentiated neural, epithelial and mesenchymal cells, and are almost always associated with deletions of the SMARCB1 gene product (INI1;22q11.23). Prognosis for AT/RT is grim. We report three very unusual cases of AT/RT. 

Case #1: 21-month girl presented with signs, symptoms and imaging findings of basilar leptomeningitis without a parenchymal mass.  

Case #2: 10-month old boy presented with no neurologic symptoms, but a congenital superficial soft tissue/dermal mass initially diagnosed as a hemangioma and later confirmed to be AT/RT. Subsequent imaging evaluation revealed a heterogeneous left insular mixed solid and cystic brain tumor.  

Case #3: 2-year old girl presented with a one-month history of ataxia, initially treated for otitis media, and found on imaging to have severe hydrocephalus with a tiny minimally enhancing lesion within the cerebral aqueduct, likely arising from the superior medullary vellum or tectum. 

DISCUSSION:

In all cases, AT/RT was not initially diagnosed by imaging. These cases highlight the varied behavior of the rare entity AT/RT and emphasize the importance of considering malignancy when clinical course is discordant from initial imaging diagnosis. Although, each of the presented cases is unique from each other, shared imaging and clinical features include age two years or younger and diffusion restriction on DWI/ADC imaging.  

REFERENCES: 

1. Jin B, Feng XY. MRI features of atypical teratoid/rhabdoid tumors in children. Pediatric Radiology 2013;43(8):10011008.

2. Koral K, Gargan L, Bowers DC, et al. Imaging characteristics of atypical teratoidrhabdoid tumor in children compared with medulloblastoma. American Journal of Roentgenology 2008;190(3):809814.

3. Osborn AG. Embryonal and Neuroblastic Tumors. Osborn's brain: imaging, pathology, and anatomy 1st ed. Manitoba: Amirsys; 2013. p. 561582. 

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(24) Submission ID#754737Split Notochord Syndrome with Dorsal Enteric FistulaSubmitter: Andrew Stubenrauch – Ochsner Clinic Foundation

Author(s)

Andrew C. Stubenrauch

Resident Physician

Ochsner Clinic Foundation

Andrew Steven

Ochsner Clinic Foundation

Charles Kantrow III

Ochsner Clinic Foundation

Cuong Bui

Ochsner Clinic Foundation

Emily G. Knafl, Medical Student

UQ Ochsner Clinical School

Submission TopicSpine

Abstract

Objective:  

Case presentation of a Split Notochord Syndrome with a dorsal enteric fistula.  Presentation to include pre-operative neonatal imaging as well as follow up through the first 5 years of life.  Will review the embryologic origins and pathogenesis of this rare disease, as well as treatment strategies and management goals.

Learning points:

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-Overview of the spectrum of imaging findings and associated abnormalities of Split Notochord Syndrome

 -Discuss clinical management of Split Notochord Syndrome and post-imaging appearance.

Discussion:

Split Notochord Syndrome is a rare congenital disorder which can be characterized as an extreme gastrulation disorder or a complex dysraphic state.  The essential finding of this disorder is a division of the spinal cord but can have additional neurologic, gastrointestinal and genitourinary anomalies.

During the gastrulation process, approximately week 3 of development,  the notochordal process develops and eventually giving rise to the notochord.  The notochord is important for directing tissues into development of the spinal cord, vertebral bodies, and associated structures.  Disruption of this process and surrounding tissue differentiation is what leads to the anomalies associated with Split Notochord Syndrome.

Early detection is essential for patients.  Prenatal ultrasound is an invaluable tool to screen for congenital disorders, however screening is not perfect and some anomalies go undetected.  After delivery, we can use any imaging modality to further evaluate extent of abnormalities.  The most essential finding to diagnosing this condition is division of the spinal cord, typically in the lumbar region, but can occur anywhere rostral to coccyx.  The vertebral bodies are divided and develop around the split spinal cord.  Commonly associated findings also include: meningocele, bowel fistulas, and enteric cysts.

Surgical intervention in the post-natal period is used to return patient to as close to normal as possible.  Ultimately, the extent of the defects is what determines management.  Typically, surgery to return normal intestinal function, and reduction of potential neurologic complications are at the forefront.    

References:

Razack, N, and Page, L. Split Notochord Syndrome: Case Report. Neurosurgery: 37; 5, Nov 1995: 1006-1008.

Hoffman, CH, Dietrich, RB et. Al. The Split Notochord Syndrome with Dorsal Enteric Fistula. AJNR: 14; 5, May/June 1993: 622-627

Dias, M, and Walker, M. The Embryogenesis of Complex Dysraphic Malformations: A Disorder of Gastrulation? Pediatric Neurosurgery: 1992, 18: 229-253

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(25) Submission ID#754901Optimizing MR Acquisition Techniques to Reduce Sedation in Pediatric NeuroimagingSubmitter: Joanne Rispoli – Boston Children's Hospital

Author(s)

Joanne M. Rispoli, MD

Neuroradiology Fellow

Boston Children's Hospital

Caroline Robson

Boston Children's Hospital

Richard Robertson

Boston Children's Hospital

Camilo Jaimes

Boston Children's Hospital

Submission TopicImaging Techniques

Abstract

Objective(s):

Sedation is often required to obtain a diagnostic neuroimaging study in the pediatric population; however, sedation carries risks and adversely impacts workflow.  Our goal will be to illustrate strategies to minimize sedation during neuroimaging examinations in the pediatric population, while maintaining image quality.

Learning Points:

There are a number of ways in which the need for sedation can be decreased during a neuro MRI, with the following methods including:

Workflow optimization

Real-time monitoring of cases

Automated image prescription and acquisition (dot Engine; SmartExam)

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Image optimization

o Fast Sequences: SSFSE, HASTE

o Acceleration techniques (Parallel imaging, simultaneous mutltislice and controlled aliasing)

o Optimize scan parameters (e.g. decrease number of excitations, phase oversampling)

Motion Compensation and Correction

o Radial acquisitions (e.g. BLADE; PROPELLER)

o Motion Correction (navigator, device-assisted)

Support and ambient optimization

o Child Life Support Staff

o Video Goggles, virtual reality

We will review each of these factors and provide clinical examples.

Discussion:

There are many benefits associated with decreasing the need for sedation during MR for the pediatric patient including decrease in risk of adverse events, decreased exam and recovery times, and decreased cost 1. Child life support with utilization of age-appropriate environmental and behavioral techniques is a vital first step. Automated scan prescription and sequence acquisition increase efficiency. Real time monitoring of the exam by the radiologist helps maintain quality, abbreviate the scan, and adjust priorities as needed.  Utilization of sequences optimized for speed and motion robust sequences increases the likelihood of obtaining diagnostic-quality images in subjects with borderline compliance. Emerging techniques such as prospective motion correction are likely to play a larger role in the future 2,3.   

References:

1. Jaimes C, Murcia DJ, Miguel K et al (2018) Identification of quality improvement areas in pediatric MRI from analysis of patient safety reports. Pediatr Radiol 48:6673

2. Dong SZ , Zhu M, Bulas D. Techniques for Minimizing Sedation in pediatric MRI. J Magn Reson Imaging. 2019 Oct;50(4):1047-1054.

3. Barkovich M, Duan X, Desikan R, Williams C, Barkovich AJ. Pediatric neuro MR: tricks to minimize sedation. Pediatr Radiol. 2018 January ; 48(1): 5055.

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(26) Submission ID#755260Dont Get Stumped by Pediatric Lumps and Bumps!Submitter: Christopher Lack – Wake Forest School of Medicine

Author(s)

Christopher M. Lack, MD PhD

Assistant Professor, Neuroradiology Fellowship Director

Wake Forest School of Medicine

Jeffrey Sachs, MD

Wake Forest School of Medicine

Paul Bunch, MD

Wake Forest School of Medicine

Michael Zapadka, DO

Wake Forest Baptist Health

Submission TopicHead and Neck

Abstract

Objective: After reviewing our case-based educational poster, the reader should be comfortable recognizing imaging findings that are specific for common etiologies resulting in lumps and bumps on the head of children.

Learning points: Lumps and bumps of the head in children are commonly encountered in clinical practice. The etiology for such lesions can be acquired or congenital and can arise from a wide variety of tissues such as the skin, fat, calvarium or the intracranial compartment. Imaging can be useful in definitively establishing the diagnosis if the etiology is not apparent clinically. It is therefore important that the radiologist is familiar with the imaging findings of the various pathologies that can result in a lump or bump. Some of the encountered lesions include post-traumatic calcified cephalohematomas, congenital dermoid/epidermoid and atretic cephalocele, vascular lesions such as sinus pericranii and tumors such as Langerhans cell histiocytosis (see figure) and metastatic neuroblastoma.

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Discussion: Knowing the imaging appearance of lesions presenting as a lump or bump of the head will help the practicing radiologist in providing a specific diagnosis which will help to guide the clinician in their management of the patient.

References:

1. Patterson, R.J., et al., Atretic parietal cephaloceles revisited: an enlarging clinical and imaging spectrum? AJNR Am J Neuroradiol, 1998. 19(4): p. 791-5.

2. Morón, F.E., et al., Lumps and Bumps on the Head in Children: Use of CT and MR Imaging in Solving the Clinical Diagnostic Dilemma. RadioGraphics, 2004. 24(6): p. 1655-1674.

 

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(27) Submission ID#755358Non-ballistic Penetrating Orbital Trauma with Intracranial Injury: A Case SeriesSubmitter: Andria Powers – University of Colorado Health/ Childrens Hospital of Colorado

Author(s)

Andria Powers, MD

Pediatric Neuroradiology Fellow

Children's Hospital of Colorado/ University of Colorado Health 

Sean Kelly

UNMC

John A. Maloney, MD

Assistant Professor

Children's Hospital Colorado/University of Colorado

Nicholas Stence

Children's Hospital Colorado

David M. Mirsky

Children's Hospital Colorado 

Ilana Neuberger

Children's Hospital of Colorado

Angela Beavers, MD

Assistant Professor of Radiology

Children's Hospital and Medical Center and University of Nebraska Medical Center

Submission TopicBrain - Trauma

Abstract

Objective: 

With our educational exhibit, we aim to highlight key imaging features of non-ballistic penetrating orbital injury

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on CT that suggest an intracranial extent of injury and warrant further evaluation with MRI.     

Learning Points:  

- Penetrating orbital trauma can have subtle, but serious intracranial consequences that may be underestimated by CT and warrant MRI evaluation. 

- Proper knowledge of superior orbital injury is key for appropriate multispecialty surgical care of patients with complex penetrating orbital trauma.  

- The spatial relationship between the orbital apex and cavernous sinus is complex and key to understanding complex orbital disease processes such as orbital apex syndrome. 

Discussion:    

While orbital trauma is not an uncommon occurrence in pediatric patients, most orbital fractures involve the inferior wall of the orbit (1).  Of orbit injuries that involve the superior wall, less than 10% have associated intracranial injury, excluding children with presentation of major head trauma /traumatic brain injury (2).  Understanding the potential importance of superior or atypical orbital injury and association with potential intracranial injury is critical.   Our exhibit will highlight key CT findings to indicate worrisome or atypical penetrating orbit trauma, and highlight instances when CT significantly underestimates the extent of injury.  Our case examples of penetrating orbital trauma will review important CT and MRI orbital anatomy, and the direct relationship with intracranial structures. We also summarize findings of orbital apex syndrome, a rare but serious potential outcome of orbital trauma (3).  

References:  

1. Koltai PJ, Amjad I, Meyer D, Feustel PJ. Orbital fractures in children. Arch Otolaryngol Head Neck Surg. 1995;121:13759.  

2. Lee, HJ, Kim YJ, Seo DW et al. Incidence of Intracranial Injury in orbital wall fracture patients not classified as traumatic brain injury.  Injury. 2018 May;49(5):963-968. 

3.  Yeh, S. and Foroozan, R. Orbital apex syndrome. Curr Opin Ophthalmol. 2004; 15: 490498 

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(28) Submission ID#755378Reversible Splenial Lesion in a Case of Malignant HyperthermiaSubmitter: Wilson Chavez – Boston Medical Center

Author(s)

Wilson A. Chavez, MD

Research Coordinator

Boston Medical Center

Role: AuthorASPNR MembershipNoTwitter Handle: @wilsiech 

Alfredo Banderas, n/a

Universidad de Las Americas

Role: AuthorASPNR MembershipNo

Alcy Torres, MD

Boston University Medical Center

Role: AuthorASPNR MembershipNo

Bindu Setty, MD

Boston University Medical Center

Role: AuthorASPNR MembershipYes

Submission TopicBrain - Other

Abstract

OBJECTIVES:

1. Present a pediatric case example of malignant hyperthermia.

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2. Discuss the importance of early diagnosis malignant hyperthermia, its management, and prognosis.

3. Review the differential diagnosis for Reversible Splenium lesion on MRI.

LEARNING POINTS:

1. Learn about Malignant Hyperthermia.

2. Review the physiopathology and differential diagnosis associated with reversible splenial lesions.

DISCUSSION:

1. Reversible splenial lesion has not been reported till date to have an association with malignant hyperthermia.

2. Malignant hyperthermia itself is a potentially lethal pharmacogenetic disorder which affects genetically predisposed individuals. Clinical manifestations can include rhabdomyolysis elevating the serum creatinine kinase (1). Massive release of IL-6 occurs as a combination of hyperthermia, rhabdomyolysis, and dehydration, which likely results in the cytotoxic lesion in the splenium (2).

3. Malignant hyperthermia has also been reported to cause prominent enhancement on MRI involving the cerebellar hemispheres and the basal ganglia suggesting the dopaminergic contribution to the malignant hyperthermia (3).

4. The radiologist needs to be familiar with other differential diagnoses of reversible splenial lesions such as ischemia, infections, trauma, drug toxicity or white matter disease to avoid confusion (4).

REFERENCES:

1. John F. Capacchione, Sheila M. Muldoon. The Relationship Between Exertional Heat Illness, Exertional Rhabdomyolysis, and Malignant Hyperthermia. Anesthesia & Analgesia: October 2009 - Volume 109 - Issue 4 - p 1065-1069. DOI: 10.1213/ane.0b013e3181a9d8d9

2. Jay Starkey, Nobuo Kobayashi, Yuji Numaguchi, Toshio Moritani. Cytotoxic Lesions of the Corpus Callosum That Show Restricted Diffusion: Mechanisms, Causes, and Manifestations. Radiografics Feb 6 2017, Vol 37, No. 2 https://doi.org/10.1148/rg.2017160085

3. Park J, Choi Y, Park S, Kim Y, Lee K. Magnetic Resonance Imaging Reveals Selective Vulnerability of the Cerebellum and Basal Ganglia in Malignant Hyperthermia. Arch Neurol. 2004;61(9):14621463. doi:10.1001/archneur.61.9.1462.

4. GarciaMonco, J. C., Cortina, I. E., Ferreira, E. , Martínez, A. , Ruiz, L. , Cabrera, A. and Beldarrain, M. G. (2011), Reversible Splenial Lesion Syndrome (RESLES): What's in a Name?. Journal of Neuroimaging, 21: e1-e14. doi:10.1111/j.1552-6569.2008.00279.x

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(29) Submission ID#755454Rare Case of Rhabdomyosarcoma Arising from a Cystic Teratoma of the Pineal GlandSubmitter: Muthiah Nachiappan – Jackson Memorial Hospital

Author(s)

Muthiah Nachiappan

Jackson Memorial Hospital

Amrutha Ramachandran

Jackson Memorial Hospital

Gaurav Saigal

Jackson Memorial Hospital

Submission TopicBrain - Tumors

Abstract

Objectives:

Review of a case of rhabdomyosarcoma arising from a cystic teratoma of the pineal gland.

 

Learning points:

Review of a case of cystic teratoma with rhabdomyosarcomatous transformation.

Benign tumors may have malignant transformation.

Importance of follow up imaging.

Discussion:

Case of 8 year old male who presented with worsening headaches, changes in behavior and signs of increased intracranial pressure. Neuroimaging revealed midline mass (~ 1x1.4x1.1cms) in the pineal region with cystic and calcific components associated with mass effect on the cerebral aqueduct and supratentorial hydrocephalus. The patient underwent resection of the mass through a supracerebellar and infratentorial approach which revealed a pathological diagnosis of benign cystic teratoma. Following surgery the patients symptoms improved. The patient redeveloped similar symptoms in 8 months following surgery with MR images demonstrating large tumor recurrence at the operative site with significant mass effect and edema in the adjacent brain parenchyma and brainstem. The patient was taken to surgery with subtotal resection which

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yielded a diagnosis of rhabdomyosarcoma and subsequently the patient was treated with chemotherapy. Ensuing neuroimaging in the next six months demonstrated good treatment response with significant interval improvement in tumor burden. Further follow up is not available as the patient family opted a different medical center.

RMS is a mesenchymal tumor composed of both mature and immature striated muscle cells most commonly diagnosed in children at primary sites with a paucity of skeletal muscle. Primary intracranial RMS is uncommon and has been described in structures in close proximity to the pineal gland with only a handful of cases arising from the pineal region being reported and a couple with rhabdomyosarcomatous transformation of cystic teratoma.

Given the variable histological components of a teratoma, imaging tends to be heterogeneous but majority of intracranial demonstrate at least some fat and some calcification, which is usually solid / clump-like.

Rhabdomyosarcomas are divided into 3 subtypes: Embryonal, alveolar and pleomorphic. They have nonspecific imaging features and are indistinguishable from other sarcomas, however the embryonal type is more homogenous in enhancement and the other two types are frequently associated with necrosis.

 References:

1. Preissig SH , Smith MT, Huntington HW. Rhabdomyosarcoma arising in a pineal teratoma.Cancer. 1979 Jul;44(1):281-4.

2. Lau SK , Cykowski MD, Desai S, Cao Y, Fuller GN, Bruner J, Okazaki I. Primary rhabdomyosarcoma of the pineal gland. Am J Clin Pathol. 2015 May;143(5):728-33. doi: 10.1309/AJCP9ZON4ZIHODIG.

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(30) Submission ID#755675Inner Ear Malformations: Identifying and Simplifying the Complex Diagnostic DilemmaSubmitter: Savyasachi Jain – Vardhaman Mahavir Medical College and Safdarjung Hospital

Author(s)

Savyasachi Jain

Radiology Resident

Vardhaman Mahavir Medical College and Safdarjung Hospital

Abanti Das

Assistant Professor

Vardhaman Mahavir Medical College and Safdarjung Hospital

Submission TopicHead and Neck

Abstract

OBJECTIVES:

Imaging Evaluation to Inner Ear Malformations (IEM)

Proposing a Reporting Template

LEARNING POINTS:

Imaging Approach in the form of an easy-to-remember and accurate flowchart.

Armamentarium of parameters needed for evaluation

Standard and specialized planes

Measurements of key important structures in the inner ear and their normal values.

Facial Nerve course

Cochleo-vestibular nerve dysplasia

Imaging predictors of post-surgical complications like CSF gusher.

Differentiating between difficult imaging differentials like Cochlear Hypoplasia Type IV vs Incomplete Partition Type II, Cochlear Hypoplasia Type II vs Incomplete Partition Type I, Common Cavity vs Cochlear Aplasia with Dilated Vestibule. 

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Associations of common malformations with specific syndromes.

 

BACKGROUND:

IEM lie at the heart of 20-40% pediatric SNHL cases, delayed diagnosis of which is detrimental to development of language milestones of the child, and consequent social, emotional and academic well-being. High Resolution CT, being the primary modality is useful to delineate inner ear anatomy and assessment for cochlear implant, while Three-Dimensional MRI images, usually a problem solving tool, are useful to assess membranous labyrinth, facial and cochleo-vestibular nerves.

Most patients with inner ear malformations have complicated and overlapping findings. Sennaroglu classification, based on embryogenesis, has been discussed in the most comprehensive detail. Easy and accurate distinction between different types of malformations has been aimed using flowchart and tables. 

Case evaluation starts with assessment in the standard cross sectional planes, in addition to Mid-Modiolar and the Round Window Niche Views in Axial Plane, latter being important to view interscalar septum in apical turns and differentiate between Cochlear Hypoplasia Type IV and Incomplete Partition Type II. 

After ruling out External and Middle Ear Abnormalities, measurements of standard parameters like Internal Auditory Canal and Vestibular Aqueduct width, lateral semicircular canal (LSCC) Bony Island Area in addition to few novel parameters like Cochlear size, Cochlear Aperture size and Width of LSCC Ampulla are important for differentiation between various anomalies.

Significant contribution to diagnosis, treatment planning and prognosis is given by facial nerve course, cochlea-vestibular dysplasias and per-operative risk of CSF gusher which can be predicted using markers like wide communication between inner ear and internal auditory canal, dilated vestibular aqueduct in addition to another novel marker  obtuse angle between tympanic and labyrinthine facial nerve segments.

MAJOR REFERENCES:

1. Casselman J.W. (2015) Congenital Malformations of the Temporal Bone in Lammerling, Marc Temporal Bone Imaging. pp. 119-154

2. Sennarolu L. Classification and Management of Inner Ear Malformations. Balkan Med J. 2017 Sep 29;34(5):397-411.

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(31) Submission ID#755686The Fetal Posterior Fossa: An Illustrative Review of Cystic Posterior Fossa Malformations on Fetal Imaging

Submitter: Virginia Brown – Cincinnati Children's Hospital

Author(s)

Virginia A. Brown

Pediatric Radiology Fellow

Cincinnati Children's Hospital

Beth Kline-Fath

Cincinnati Children's Hospital

Usha Nagaraj

Cincinnati Children's Hospital

William T. OBrien

Cincinnati Children's Hospital

Submission TopicFetal

Abstract

Objectives:

Identify cystic posterior fossa malformations on fetal imaging studies.

Recognize & describe imaging patterns of the normal posterior fossa, as well as cystic posterior fossa malformations.

Understand the impact of accurate interpretation of fetal imaging in providing valuable information that helps guide prenatal counseling and facilitate management decisions.

Learning Points:This educational exhibit will provide an illustrative review of the following posterior fossa malformations on fetal imaging, including normal posterior fossa anatomy:

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Mega Cisterna Magna

Blake Pouch Remnant

Vermian Hypoplasia

Dandy-Walker Malformation

Discussion:Fetal imaging, specifically fetal MR is being increasingly utilized for detailed evaluation of the fetus in utero. Familiarity with normal fetal MR anatomy is essential to the detection of abnormalities of the posterior fossa. Anomalies of formation of the rhombencephalic roof includes mega cisterna magna, Blake pouch remnant, vermian hypoplasia, and Dandy-Walker malformation. Fetal MR is an important tool to confirm the diagnosis, describe the anatomic features in detail, and identify associated anomalies. This educational exhibit will provide an illustrative review of the fetal MR imaging findings of the cystic posterior fossa malformations that can affect the fetus in the prenatal period and beyond.

Selected References:Robinson (2014) Inferior vermian hypoplasia preconception, misconception. Ultrasound in Obstetrics & Gynecology, 43(2), pp. 123-136. doi: 10.1002/uog.13296.

Kline-Fath, Beth et al. Posterior Fossa Anomalies. Fundamental and Advanced Fetal Imaging: Ultrasound and MRI. Wolters Kluwer, 2015, ch. 12.3.

Disclosures: None.

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(32) Submission ID#755694Intraoperative MRI for Resection of Pediatric CNS TumorsSubmitter: Jorge Lee Diaz – LeBonheur Children's Hospital

Author(s)

Jorge A. Lee-Diaz, M.D

Assistant Professor of Radiology/ Pediatric Neuroradiologist

LeBonheur Children's Hospital

Asim Choudhri, M.D

Le Bonheur Children's Hospital

Adeel Siddiqui, M.D

LeBonheur Children's Hospital

Submission TopicBrain - Tumors

Abstract Intraoperative MRI (iMRI) is a desirable tool for many surgeries, especially tumor resection, because many times the percentage of tumor left makes a difference in the outcome of the patient.

 

Objective

1. To highlight the advantages of iMRI.

 

Learning points

1. Difference between CNS tumors in pediatric and adult patients.

Many of the pediatric tumors are single and well defined, making the gross total resection curative in many cases. Opposite to adults were the majority of intracranial tumors are multiple or infiltrated, such as Glioblastoma Multiforme and metastasis.

 

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2. Understanding of the technique

The protocol includes T1 STEALTH, contrast injection and T2 weighted images in multiple planes. The availability to use almost any diagnostic sequence makes this procedure versatile, but we have to take in consideration the operation room and anesthesia time.

 

3. Discussion of key cases that will illustrate the how we do it, including: Complete resection of Pilocytic Astrocytoma,  partial resection of brain stem glioma, biopsy of thalamic high grade glioma, partial resection of seizure inducing tumor, and resection of intramedullary spinal neoplasia.

 

Discussion

1. How and when to use iMRI

Safety is the main concern. Everyone and everything in the room at the moment of iMRI request should be MRI safe, including patient and staff. For tumor resection, iMRI should be used whenever is available and doesnt prolong unnecessarily the surgery and anesthesia time.

2. The advantages of iMRI compared to post operative MRI.

In the case there is residual tumor, it can be used as a road map (STEALTH) for further resection. It can evaluate for possibly fixable acute complications. Avoids the need of a post operative MRI and all the risk involved with the procedure and new anesthesia.

3. The future of iMRI and tumor surgery.

The demand on using this device for evaluation of degree of tumor resection is increasing. It gives a cutting edge advantage on treatment and seems to be going in to the direction of standard of care when is available.

 

References

A.F. Choudhri, P. Klimo, T.S. Auschwitz, M.T. Whitehead and F.A. Boop. 3T Intraoperative MRI for Management of Pediatric CNS Neoplasms. American Journal of Neuroradiology December 2014, 35 (12) 2382-2387

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(33) Submission ID#755717Acute Presentation of Inner Ear Malformations: Recurrent Bacterial Meningitis Due to Congenital Perilymphatic Fistula in an Infant- the CochleocoeleSubmitter: DEBARATA BHATTACHARYA – ROYAL BELFAST HOSPITAL FOR SICK CHILDREN

Author(s)

DEBARATA BHATTACHARYA, MBBS MRCS FRCR

Consultant Neuroradiologist

ROYAL BELFAST HOSPITAL FOR SICK CHILDREN

GRAHAM SMYTH

Consultant Neuroradiologist

Royal Belfast Hospital For Sick Children

Peter Flynn

Consultant Neuroradiologist

Royal Belfast Hospital for Sick Children

Brendan Mckenna

Specialty Trainee Neuroradiology

RBHSC

Submission TopicBrain - Developmental

Abstract Objective(s)

To appreciate the importance of inner ear malformations in cases of recurrent bacterial meningitis

Learning Points

Understanding  complex paediatric inner ear malformations with reference to CSF leak and subsequent complications.

Performing appropriate imaging with accurate interpretation thus highlighting the anatomical defect to aid surgical treatment.

Discussion12 month old female infant (one of term twins) presented following her second episode of meningitis. There

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was no significant previous medical history, other than possible left sided congenital hearing loss. The causative organisms  were Haemophilus influenza and strep. pneumoniae from CSF cultures.

Clinical assessment showed no evidence of CSF rhinorrhea with significant left sided hearing loss..

High resolution CT scan of petrous temporal bones ( GE Revolution® system with 0.5 mm slice thickness) under GA showed bilateral Incomplete Partitioning Type 11  malformations with oval window defects and abnormal stapes foot plates. Dedicated MRI of IAMs ( Philips Achieva® 1.5T system with 0.6 mm thickness) under GA further detailed the inner ear anatomy, in particular clearly demonstrating a defect in the right oval window with a so called "cochleocoele".

The patient underwent exploratory tympanocentesis , demonstrating CSF in the left middle ear. The CSF was found to be emanating from the region of the stapes footplate, with an underlying defect and a cyst in keeping with congenital cochleocoele. The defect was repaired with autologous temporalis fascia.

The patient made good recovery post surgery, with no further episodes of meningitis or CSF leak. She was subsequently referred to paediatric infectious disease for enhanced vaccination programme, and awaits cochlear implantation.  

This case highlights the importance of being aware of inner ear malformations ( in particular IP1) causing CSF leaks and subsequent recurrent bacterial meningitis, which is a potentially life threatening event. Optimal imaging using a combination of thin section high resolution CT and MR imaging, can successfully identify the nature of the malformation, assess the anatomy in great detail, as well as aid successful surgical treatment. exact  Although similar cases have been described in literature in older children2, we highlight theeloquent demonstration of the "cocheocoele" at site of the CSF leak, in an infant, by high resolution MRI. 

References

1 Sennaroglu L1, Bajin MD1 Classification and Current Management of Inner Ear Malformations. Balkan Med J. 2017 Sep 29;34(5):397-411

2 Kulkarni GB1, Roopa S et al. Cystic cochleovestibular anomaly presenting with congenital deafness and recurrent bacterial meningitis in childhood. Ann Indian Acad Neurol. 2013 Apr;16(2):272-5.

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(34) Submission ID#755743Intraventricular Tumors in Children: A Pictorial EssaySubmitter: Brian Burkett – Mayo Clinic

Author(s)

Brian J. Burkett

Diagnostic Radiology Resident

Mayo Clinic

Julie B. Guerin, MD

Mayo Clinic

Laurence Eckel

Mayo Clinic

Michelle Silvera

Mayo Clinic

Submission TopicBrain - Tumors

Abstract

Objective(s):

1. Review the differential diagnosis for intraventricular tumors in children and adolescents.

2. Discuss pertinent imaging features that suggest specific intraventricular tumor entities.

3. Illustrate a range of intraventricular neoplasms through clinical examples with imaging and histologic confirmation.

Learning Points:

1. The differential diagnosis of intraventricular tumors can be narrowed by the location of tumor within the ventricle(s), the patients age, and certain imaging features.

2. Genetic syndromes may be associated with certain intraventricular tumors.

3. Sequelae that can arise from intraventricular tumors include headaches, vomiting, neurologic deficits, and seizures.

4. Case examples will illustrate various intraventricular tumors such as choroid plexus papilloma, choroid plexus carcinoma, pilocytic astrocytoma, subependymal giant cell astrocytoma, neurocytoma, meningioma, teratoma, ganglioglioma, ependymoma, ATRT, and medulloblastoma.

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Discussion:  

In pediatric patients, a range of tumors can occur in the ventricular system, sometimes with overlapping imaging features. The differential diagnosis differs based on the age of the child, the location of tumor within the ventricles, and imaging features. For example, choroid plexus tumors occur more frequently in the first decade of life (1), subependymal giant cell tumors are classically located at the foramen of Monroe, and central neurocytomas are characteristically attached to the septum pellucidum (2). Knowledge of characteristic imaging features can yield an informed differential diagnosis and direct surgical planning or expectant management. Certain intraventricular tumor entities are associated with genetic syndromes, such as Gorlins syndrome, neurofibromatosis, and tuberous sclerosis. Awareness of such relationships can be helpful in arriving at the correct diagnosis. Several presented cases will illustrate a rational thought process for evaluating intraventricular tumors in children, with a discussion of associated genetic conditions, clinical complications and sequelae, and correlation of imaging features with pathology.

References:

1. Smith AB, Smirniotopoulos JG, Horkanyne-Szakaly I. From the Radiologic Pathology Archives: Intraventricular Neoplasms: Radiologic-Pathologic Correlation. RadioGraphics. 2013;33(1):21-43

2. de Castro FD, Reis F, Guerra JG. Intraventricular mass lesions at magnetic resonance imaging: iconographic essay - part 1. Radiol Bras. 2014;47(3):176-81.

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(35) Submission ID#755747Intracranial MRI Findings in Kogami Ogata Syndrome. a Review of LiteratureSubmitter: NEETIKA GUPTA – CHILDREN HOSPITAL OF EASTERN ONTARIO

Author(s)

NEETIKA GUPTA, n/a

CLINICAL FELLOW

CHILDREN HOSPITAL OF EASTERN ONTARIO

Nishard Abdeen

CHEO

Submission TopicBrain - Developmental

Abstract

Objective:

To describe the undescribed intracranial findings in Kogami Ogata Syndrome.

 

Learning Points:

We illustrate the intracranial MRI findings in a case of Kogami Ogata syndrome (KOS), which to our knowledge have not been previously described.

 

Discussion:

KOS is a very rare genetic disorder that has craniofacial dysmorphism and thoracic abnormalities along with abdominal wall defects, distal arthrogryposis, and intellectual disability. There is also a known increased risk of hepatoblastoma.

A 23 month male with severe hypoventilation and central apnea was diagnosed with KOS. MRI of the brain showed 1) thinning of the corpus callosum and a vertical orientation of the splenium, 2) bilateral choroid plexus cysts, 3) hypoplastic anterior pituitary 4) multiple small tortuous pila veins along the cerebral hemispheres. There was no specific abnormality of the brainstem. Myelination and gyration were normal.

An extensive search of existing literature shows that intracranial findings in Kagami Ogata syndromes have never been described before and this article is first attempt to do so.

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 References:

Kagami M, Kurosawa K, Miyazaki O, Ishino F, Matsuoka K, Ogata T. Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome). Eur J Hum Genet. 2015 Nov;23(11):148898.

 Yamagata K, Kawamura A, Kasai S, Akazawa M, Takeda M, Tachibana K. Anesthetic management of a child with Kagami-Ogata syndrome complicated with marked tracheal deviation: a case report. JA Clin Rep. 2018 Aug 31;4(1):62.

 Luk H-M. Familial KagamiOgata syndrome in Chinese. Clinical Dysmorphology. 2017 Apr;26(2):124.        

 

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(36) Submission ID#755756Intracranial MRI Findings in Adenosine Deaminase Type 2 Deficiency (DADA2), an Emerging Cause of Pediatric StrokeSubmitter: NEETIKA GUPTA – CHILDREN HOSPITAL OF EASTERN ONTARIO

Author(s)

NEETIKA GUPTA, n/a

CLINICAL FELLOW -CHILDREN HOSPITAL OF EASTERN ONTARIO

Nishard Abdeen

CHEO

Submission TopicBrain - Cerebrovascular

Abstract

Objective:

To highlight the presentation and intracranial imaging findings in Adenosine deaminase deficiency type 2, an emerging cause of pediatric stroke.

 Learning Points:

Mutations in the cats eye syndrome chromosome region 1 (CECR1) can cause deficiency in ADA 2.

Intracranial manifestations of the syndrome include thrombotic stroke (particularly in the basal ganglia, mesencephalon, and brain stem), aneurysms, and intracranial haemorrhage. These have not to our knowledge been described in the radiology literature.

Ophthalmologic manifestations include cranial nerve palsies, central retinal artery occlusion, optic atrophy and inflammation of extra-ocular muscles.

The pathophysiology of ADA 2 deficiency and relationship to infarct is unclear; however there is loss of endothelial cell integrity and activation of monocytes and macrophages in patients with DADA2.

There is no narrowing, irregularity or enhancement of vessel walls as would be expected with primary CNS vasculitis. Vasospasm may play an important role.

One unusual mechanism of infarction in this syndrome is thrombosis within an aneurysm causing occlusion of a downstream artery and ischemia in the corresponding distribution. This phenomenon is illustrated in the anterior choroidal artery, with restricted diffusion in the posterior limb of internal capsule, hippocampus and thalamus. This aneurysm was not well seen on time of flight MRA but was demonstrated on contrast enhanced MRA.

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Patients may develop a systemic inflammatory syndrome of livedo reticularis, idiopathic arthritis and polyarteritis nodosa separately from episodes of infarction. Aneurysms of medium sized vessels in the kidneys and GI tract are manifestations of the latter.

 Discussion:

Any child presenting with a thrombotic stroke of unknown cause should be screened for CECR1 mutation and ADA 2 deficiency, particularly if presenting before age 5 years and if the strokes involve deep gray nuclei, midbrain and brainstem.

A thrombotic stroke may be caused by thrombosis within an aneurysm that is not well seen on time of flight angiography. In this entity, additional contrast enhanced MRA should be considered.

References:

Elbracht, M, Muller M, Wagner N, Kuhl C et al. Neuropediatrics DOI htto://dx.doi.org/10.1055/s-0036-1597611.

Zhou Q, Yang D, Ombrello A , Zavialov AV et al. N Engl J Med. 2014 March 6; 370(10): 911920. doi:10.1056/NEJMoa1307361.

Caorsi R, Penco F, Grossi A,Insalaco A et al. Ann Rheum Dis 2017;0:19. doi:10.1136/annrheumdis-2016-210802

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(37) Submission ID#755765Phenotyping the Fetus with Abnormal Bilateral Ganglionic Eminence Enlargement / Persistence: The Importance of Biometry and Extracerebral FindingsSubmitter: Stacy Goergen – Monash Health

Author(s)

Stacy K. Goergen, MBBS, FRANZCR, MClinEpi

Director of Research, Monash Imaging; Head, Obstetric MRI, Monash Imaging

Monash Health

Michael Fahey

Head, Neurogenetics and Paediatric Neurology

Monash Health

Mark Teoh

Monash Health

Lufee Wong

Monash Health

Andrew Edwards

Monash Health

Submission TopicFetal

Abstract

Objectives:

Abnormal persistence or enlargement of the ganglionic eminences (GEs) with or without cavitation is an important sign of significant intracranial pathology on fetal MRI and is seen in a variety of conditions. Genetic diagnosis is facilitated by accurate prenatal phenotyping: knowledge of associated abnormal findings intra- and extracranially can enable diagnostic specificity.

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Learning Points:

A waiver of full ethics application was obtained in order to collect and present deidentified patient data.

Increased fetal head biometry on MR is characteristic of overgrowth syndromes due to PI3K  -  AKT mTOR pathway genetic variants; presence of cardiac rhabdomyoma on ultrasound strongly suggests tuberous sclerosis complex (TSC) and postaxial polydactyly, MPPH. Cases of hemimegalencephaly, MPPH, hypomelanosis of Ito, and SEGA in a patient with TSC will be presented.

When underopercularisation is present, lissencephaly syndromes should be suspected; hydrocephalus, a thin brainstem, small cerebellum and callosal hypogenesis or agenesis are common to both tubulinopathy and dystroglycanopathy / Walker Warburg syndrome.

o Brainstem kinking, ocular abnormalities (persistent hyperplastic primary vitreous, microphthalmia, buphthalmos), cephalocele and a previously affected child or consanguinity favour dystroglycanopathy / Walker Warburg syndrome whereas absence of these findings favours tubulinopathy.

Cavitated, enlarged GEs associated with germinolytic cysts and callosal hypogenesis / agenesis  can be seen in mitochondrial disorders.

 

Discussion:

Review of prenatal ultrasound findings, measurement of cerebral hemispheric and cerebellar biometry with comparison against validated fetal MR normative data, and tertiary ultrasound to evaluate the fetal hands and heart for sometimes subtle findings of polydactyly and rhabdomyoma is essential to diagnostic specificity in the fetus with abnormally enlarged or persistent GEs.

 

1. Righini A, Cesaretti C, Conte G, Parazzini C, Frassoni C, Bulfamante G, Avagliano L, Inverardi F, Izzo G, Rustico M. Expanding the spectrum of human ganglionic eminence region anomalies on fetal magnetic resonance imaging. Neuroradiology. 2016 Mar 1;58(3):293-300.

 

2. Prefumo F, Petrilli G, Palumbo G, Sartori E, Izzi C, Pinelli L. Prenatal ultrasound diagnosis of cavitation of the ganglionic eminence. Ultrasound in Obstetrics & Gynecology. 2019 Feb 10.

 

 

 

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(38) Submission ID#755836Tracing the Vascular Roots: A Review of Genetic Arteriopathies in ChildhoodSubmitter: Ashley Knight-Greenfield – Northwestern medicine/lurie Childrens

Author(s)

Ashley Knight-Greenfield

Neuroradiology Fellow

Lurie Children's Hospital of Chicago, Northwestern Medicine

Donald R. Cantrell

Northwestern University

Susan Palasis, MD

Division Chief, Pediatric Neuroradiology

Lurie Children's Hospital of Chicago

Submission TopicBrain - Cerebrovascular

Abstract

Objectives:

To review the genetically determined neurovascular arteriopathies in children

To understand unifying and distinguishing imaging features that will assist with prompt diagnosis and management of this challenging group of disorders.

Learning Points:

Genetic arteriopathies can present with a wide range of non-specific symptoms and parenchymal changes on MR that range from normal findings to stroke.

Genetic vasculopathies can be categorized based on etiology (primary intracranial vasculopathy or secondary to connective tissue disease), and on the order of vessels involved.

Large and medium vessel genetic vasculopathies include Moyamoya Disease and Moyamoya Syndrome. Neurofibromatosis 1 (NF1), Fibromuscular dysplasia (FMD), Alagille syndrome, Ehlers Danlos IV, Sickle cell disease (SCD), hyperplastic vasculomyopathy (ACTA2), Aicardi-Goutieres, and PHACES fall into this category.

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Genetic vasculopathies can also develop aneurysms such as Tuberous sclerosis (TS), Alagille syndrome, Loeys-Dietz syndrome, Marfan syndrome, Osteogenesis imperfecta (OI), Menkes disease, and PHACES.

Small vessel genetic arteriopathies are rare in childhood, the most common of which is cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Associated brain parenchymal findings can offer clues to the correct diagnosis (Fig 1. Menkes disease).

Recognizing imaging findings that suggest a genetic arteriopathy can help direct prompt appropriate management and genetic counseling for affected children

Discussion:

Genetically determined childhood arteriopathies involving the CNS are uncommon, and challenging to diagnose. This may lead to delays in treatment, placing the child at risk for cerebral ischemic injury and clinical decline. Characteristic clinical features in association with brain parenchymal changes can suggest a possible genetic arteriopathy, which can prompt further diagnostic evaluation. Learning to recognize important imaging signs of these genetic conditions can help to avoid misdiagnosis and expedite proper treatment.

References:

1. Goyal P, Malhotra A, Almast J, Sapire J, Gupta S, Mangla M, et al. Neuroimaging of Pediatric Arteriopathies. J Neuroimaging. 2019. doi:10.1111/jon.12614

2. McCrea N, Fullerton HJ, Ganesan V. Genetic and Environmental Associations With Pediatric Cerebral Arteriopathy. Stroke. 2019. doi:10.1161/STROKEAHA.118.020479

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(39) Submission ID#755947Pediatric Hypoxic Ischemic Encephalopathy and Its Mimics Cased Based ReviewSubmitter: Rajan Patel – The University of Texas Health Science Center at Houston

Author(s)

Rajan Patel, MD, DABR

Assistant Professor, Division of Neuroradiology, Dept. of Diagnostic and Interventional Imaging

The University of Texas Health Science Center at Houston

Shekhar Khanpara, MD

Fellow, Division of Neuroradiology, Department of Diagnostic and Interventional Imaging

The University of Texas Health Science Center at Houston

Eliana Bonfante-Mejia, MD

Associate Professor, Division of Neuroradiology, Department of Diagnostic and Interventional Imaging

The University of Texas Health Science Center at Houston

Arash Kamali, MD

Assistant Professor, Division of Neuroradiology, Department of Diagnostic and Interventional Imaging

The University of Texas Health Science Center at Houston

Roy Jacob, MD

University Medical Center

Submission TopicBrain - Cerebrovascular

Abstract

Objective or Purpose: Hypoxic-ischemic encephalopathy (HIE) continues to be an important cause of mortality and morbidity in children, especially in neonates. HIE is a potentially devastating neurological condition for which prompt recognition is crucial for patient management. Magnetic Resonance (MR) imaging plays an important role in identifying the severity of tissue injury and prognostication. The appearance of HIE on imaging depends on the duration and severity of the hypoperfusion injury, which can range from very subtle to

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global involvement. The differential diagnosis is wide, including infectious, toxic and metabolic causes. It is critical for the radiologist to be aware of these confounding imaging appearances to make an accurate diagnosis for appropriate management.  

Material and Methods: A retrospective analysis of MR imaging in pediatric patients demonstrating imaging features of HIE and similar to that of HIE with alternative diagnoses. Imaging and clinical history are correlated with laboratory findings when applicable.

Learning Points: A variety of cases of HIE and its mimics are selected and will be presented in a case based format. Examples include infectious, toxic and metabolic disorders including, but not limited to Herpes encephalitis, Non-ketotic hyperglycemia, Neonatal hypoglycemia, Maple syrup urine disease (MSUD), and Vigabatrin toxicity.

Discussion: While HIE in itself is a crucial diagnosis to make, it is important for the radiologist to be familiar with its typical as well atypical appearances and differential diagnoses that can mimic the findings of HIE, many of which require prompt recognition to improve patient outcomes.

References:

1. Ghei et al MR Imaging of Hypoxic-Ischemic Injury in Term Neonates: Pearls and Pitfalls RadioGraphics 2014; 34:10471061

2. Houng et al Hypoxic-Ischemic Brain Injury: Imaging Findings from Birth to Adulthood RadioGraphics 2008; 28:417 439

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(40) Submission ID#755965Case Based Approach with Pattern Recognition in Classification of Cerebellar Atrophy

Submitter: Maaz Ghouri – Boston Childrens Hospital

Author(s)

Maaz A. Ghouri, MD, MRCS, FRCR, EDiR

Fellow in Pediatric Radiology

Boston Childrens Hospital

Joanne M. Rispoli, MD

Neuroradiology Fellow

Boston Children's Hospital

Sanjay Prabhu, MBBS, FRCR

Pediatric Neuroradiologist

Harvard Medical School

Submission TopicBrain - Developmental

Abstract

Objective:

At the end of  viewing this exhibit, the reader will be able to:

1. Differentiate between cerebellar atrophy and hypoplasia

2. Describe the pattern-based approach to evaluation of cerebellar atrophy

3. Define the six major categories based on imaging appearances

4. Recognize the role of differentiating between progressive cerebellar atrophy versus stable atrophy

5. Get a basic understanding of the genetic etiologies of CA

Learning Points:

Cerebellar Atrophy (CA) is a imaging finding seen on pediatric brain MRIs at various ages and in a wide  range of both acquired and congenital causes. In this exhibit, we provide a readily understandable algorithmic

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pattern recognition approach that can help narrow down the differential diagnoses in patients with cerebellar atrophy.

CA can be divided into based on imaging appearances into  (A) Pure Cerebellar atrophy (Pure CA) and (B) Cerebellar Atrophy Plus other associations (CA Plus) and (C) CA with white matter involvement in cerebellum and CA without white matter involvement in cerebellum(1). The CA Plus category can be sub classified

into six further subcategories based on findings in other parts of the brain including a) Hypomyelination b) Basal ganglia involvement c) White matter involvement in supratentorial region d) Cerebellar cortex hyperintensity e) Supratentorial atrophy f) Signal alterations in dentate nucleus or cerebellar white matter. We illustrate these subgroups by providing examples of disease entities in each category.

Discussion:

CA is a common imaging finding in children with a multitude of neurological symptoms and signs and with a wide range of etiologies from genetic to acquired causes (1). MRI is the best imaging modality to evaluate and assess CA. At the outset, it is extremely important to distinguish atrophy from hypoplasia before embarking on the classification pathway. After this point in the diagnostic algorithm, there is considerable overlap between the imaging appearances of CA resulting from different genetic and non-genetic conditions  (2 and 3).  Using MRI, it is possible at least in some cases, to narrow down the differential diagnosis and help minimize ancillary testing looking for an etiology. Using a algorithmic approach, we illustrate how it is possible to differentiate various forms of CA using a combination of clinical, imaging and biogenetic markers.

References:

1. Poretti A et.al. Eur J Paediatr Neurol. 2008 May;12(3):155-67. Epub 2007 Sep 14.

2. Poretti A et.al. Neuropediatrics. 2015 Dec;46(6):359-70.

3. Steinlin M et.al. Neuroradiology. 1998 Jun;40 (6):347-54.

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(41) Submission ID#755992Pediatric Brain and Spinal Tuberculosis: A Radiological ReviewSubmitter: Atin Kumar – All India Institute of Medical Sciences

Author(s)

Atin Kumar

Professor

All India Institute of Medical Sciences, New Delhi, India

Richa Yadav

All India Institute of Medical Sciences

Biswaroop Chakrabarty

All India Institute of Medical Sciences

Submission TopicBrain - Other

Abstract Objectives

To illustrate the varied imaging manifestations of brain and spinal tuberculosis in pediatric population.

Learning Points

Tuberculosis of the central nervous system has shown increasing prevalence in recent years in both immunocompetent and immunocompromised patients. If not recognized and diagnosed early in the course of the disease, it may have devastating effects, especially in the pediatric population.

This presentation reviews the typical and atypical imaging features of the varied forms of tubercular involvement of the brain and spine in children. The exhibit will be organised in the following manner -

Brain tuberculosis

Meningeal

o Leptomeningitis

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Basal

Focal peripheral

o Pachymeningitis

Parenchymal

o Tuberculomas (varied stages)

o Tubercular abscess

o Cerebritis

Skull vault and base

Complications

o Hydrocephalus

o Vasculitis and infarcts

Response assessment

o Immune reconstitution inflammatory response (IRIS)

o Follow up imaging

 

Spinal tuberculosis

Vertebral column

o Spondylodiscitis

o Anterior subligamentous vertebral body involvement

o Posterior elements involvement

Spinal cord

o Intramedullay tuberculoma

Meninges

o Arachnoiditis

Complications

o Paravertebral abscess

o Gibbus

The role of CT and MRI will be elaborated while presenting the imaging manifestations. The imaging differential diagnosis will be discussed and key learning points will be highlighted to differentiate tubercular involvement from the mimickers.

Discussion

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Tuberculosis of the brain and spine is a highly prevalent disease in many parts of the world. Imaging plays a key role in its diagnosis. The reader should be able to identify the varied imaging manifestations of this disease and be able to diagnose it with reasonable certainty so as to be able to help in instituting early therapy and prevent the occurrence of complications.

References

1.  Chaudhary V, Bano S, Garga UC. Central Nervous System Tuberculosis: An Imaging Perspective. Can Assoc Radiol J. 2017 May;68(2):161-170.

2.  Kilborn T, Janse van Rensburg P, Candy S. Pediatric and adult spinal tuberculosis: imaging and pathophysiology. Neuroimaging Clin N Am. 2015 May;25(2):209-31.

3.  Gupta RK, Kumar S. Central nervous system tuberculosis. Neuroimaging Clin N Am. 2011 Nov;21(4):795-814, vii-viii.

Legend

Fig. 1 :  Axial T2W (A) and contrast enhanced T1W (B) MR images of a 7-year-old male child presenting with seizures shows a tuberculoma in posterior fossa appearing predominantly iso to hypointense on T2W images and showing peripheral enhancement. Axial contrast enhanced T1W MR image (C) of a different 10-year-old girl child presenting with signs of meningitis shows dense enhancing exudates in basal cisterns consistent with tubercular meningitis. MR angiography (D) shows vasculitis in the form of significant narrowing of bilateral distal ICA and proximal MCA and ACA.

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(42) Submission ID#755995MOG-antibody-associated Demyelination: Review of Neuroimaging Phenotypes and Newly Reported FeaturesSubmitter: Adam Donithan – UVA

Author(s)

Adam Donithan, MD

Neuroradiology Fellow

University of Virginia

James N. Brenton, MD

Assistant Professor of Neurology & Pediatrics

University of Virginia

Julie A. Matsumoto, MD

Associate Professor of Radiology, Division of Neuroradiology

University of Virginia

Submission TopicBrain - Other

Abstract Objectives: 

To review the current understanding of neuroimaging and clinical phenotypes in pediatric myelin oligodendrocyte glycoprotein antibody (MOG-ab) -associated demyelination, with emphasis on characteristic imaging patterns. 

To discuss atypical imaging findings more rarely encountered in pediatric MOG-ab patients including perivascular enhancement, spinal nerve root enhancement, and lesions with restricted diffusion. 

Learning points: 

MOG is a CNS-specific protein found on the surface of oligodendrocytes and myelin sheaths. Antibodies targeting MOG are associated with a variety of clinical phenotypes with different imaging manifestations that are strongly influenced by age.

Brain parenchymal lesions (as opposed to optic nerve or spinal cord lesions) predominate in younger children,

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often with a pattern typical of acute disseminated encephalomyelitis (ADEM). A leukodystrophy-like pattern may occur in children < 5 years of age. An NMOSD pattern with longitudinally extensive transverse myelitis and/or optic neuritis predominates in older children and adults.

Intracranial perivascular and/or spinal nerve root enhancement have been rarely described in MOG-ab-associated demyelination, and will be illustrated with cases from our institution.

Discussion:  

Neuroimaging phenotypes in pediatric MOG-ab-associated demyelination follow characteristic patterns with a strong age-related component. Knowledge of these patterns helps cue the radiologist to a possible diagnosis of MOG-related disorders, which may expedite appropriate testing and guide treatment. Although seemingly rare, a perivascular pattern of enhancement, spinal nerve root enhancement, or lesions with diffusion restriction should not dissuade the radiologist from the possibility of a MOG-associated disorder.

References:

Konuskan, B. et al. (2018). Retrospective analysis of children with myelin oligodendrocyte glycoprotein antibody-related disorders. Mult Scler Relat Disord, 26, pp.1-7.

Hacohen, Y. et al. (2017). Leukodystrophy-like phenotype in children with myelin oligodendrocyte glycoprotein antibody-associated disease. Dev Med Child Neurol, 60(4), pp.417-423.

Baumann, M. et al. (2018). MRI of the first event in pediatric acquired demyelinating syndromes with antibodies to myelin oligodendrocyte glycoprotein. JNeurol, 265(4), pp.845-855.

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(43) Submission ID#756003Recognizing Thiamine Deficiency in ChildrenSubmitter: Bryan Philbrook – Children's Healthcare of Atlanta

Author(s)

Bryan Philbrook, MD

Attending Pediatric Neurologist

Emory University/ Children's Healthcare of Atlanta

Laura Hayes, MD

Attending Pediatric Neuroradiologist

Nemours Children's Health System

Susan Palasis, MD

Division Chief, Pediatric Neuroradiology

Lurie Children's Hospital of Chicago

Submission TopicBrain - Other

Abstract Objective: To bring awareness to the thiamine deficiency in children and its neuroimaging manifestation on conventional and advanced MR evaluation.

Learning Points:-Review the risk factors that can lead to thiamine deficiency-Understand basic thiamine metabolism and its importance in cellular function-Become familiar with clinical manifestations of the disease-Review neuroimaging manifestations

Discussion: The clinical signs of thiamine deficiency can vary with patient age. Patients with neurologic manifestations can present with nonspecific vomiting, nystagmus, and seizures. The classical triad of Wernicke encephalopathy seen in adults with thiamine deficiency may not be present in children and therefore imaging plays an important role in reaching the correct diagnosis.

There are sporadic case reports of pediatric thiamine deficiency in the literature. The mammillary bodies are particularly sensitive to injury from thiamine deficiency amongst other areas of the brain. Subtle areas of abnormal signal and diffusion restriction in affected areas can be detected.

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The diagnosis of thiamine deficiency in children relies heavily on neuroimaging. Familiarity of findings that can indicate thiamine deficiency in children can lead to prompt treatment before irreversible injury occurs.

References1. Vasconcelos MM, Silva KP, Vidal G, et al. Early diagnosis of pediatric Wernickes encephalopathy. Pediatr Neurol 1999;20:2892942. Whitfield KC, et al. Thiamine deficiency disorders: diagnosis, prevalence, and a roadmap for global control programs. Ann N Y Acad Sci. 2018 Oct;1430(1):3-43.

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(44) Submission ID#756004Imaging of Post-treatment Changes to the Pediatric Central Nervous SystemSubmitter: Caroline Swift – Northwestern

Author(s)

Caroline C. Swift, M.D.

Neuroradiology Fellow

Northwestern University Feinberg School of Medicine

Maura E. Ryan, M.D.

Associate Professor of Radiology, Attending Radiologist

Northwestern University Feinberg School of Medicine, Ann & Robert H. Lurie Childrens Hospital of Chicago

Alok Jaju, M.D.

Assistant Professor of Radiology, Attending Radiologist

Northwestern University, Feinberg School of Medicine, Ann & Robert H. Lurie Childrens Hospital of Chicago

Submission TopicBrain - Other

Abstract

OBJECTIVE: To describe the imaging and clinical presentations of characteristic post treatment changes to the pediatric central nervous system (CNS).

LEARNING POINTS:

Treatment strategies for pediatric disorders such as malignancy and seizure can affect the pediatric CNS.

The presenting symptoms can be severe due to acute neurotoxicity, or the effects may be discovered incidentally on imaging.

Many treatment effects have characteristic imaging findings that are important to recognize and distinguish from disease so that the treatment regimen can be tailored appropriately.

DISCUSSION:

Methotrexate is an integral component of treatment for acute lymphoblastic leukemia (ALL). Unfortunately, methotrexate is also a potential cause of neurotoxicity, occurring in approximately 3-15% of patients after intrathecal administration. Children can have severe clinical symptoms including headache, aphasia or

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hemiplegia. MRI demonstrates a characteristic pattern of restricted diffusion in the bilateral or unilateral centrum semiovale in the acute phase with subsequent resolution of the diffusion restriction and residual T2/FLAIR hyperintensity.

CNS radiation therapy is included in the treatment for many pediatric malignancies. Acute effects from CNS radiation therapy are due primarily to vasodilation and increased capillary permeability, which may result in radiation necrosis, vasculopathy and formation of vascular proliferative lesions. Parenchymal radiation injury often demonstrates multifocal areas of enhancement immediately adjacent to the resection cavity that resolve within about 5-6 months. Radiation can also lead to hyalinization and fibrinoid necrosis of vascular walls leading to secondary CNS vasculitis or vascular proliferative lesions like cavernomas. If a pediatric patient with previous CNS radiation presents with a hemorrhagic lesion, it is important to keep radiation induced cavernoma in mind.

Vigabatrin is an antiepileptic drug used for treatment of infantile spasms. Approximately 22-32% of infants receiving vigabatrin have been reported to develop restricted diffusion and/or T2/FLAIR hyperintensity within the globi pallidi, nuclei dentate, thalami, corpus callosum, and brainstem. In most cases, these findings are transient and asymptomatic, although there have been some reported cases of infants developing movement disorders that resolved after dose reduction or cessation of treatment.

Carbamazepine, an anticonvulsant drug used in the treatment of epilepsy, can be a cause of a cytotoxic lesion within the corpus callosum. These lesions demonstrate restricted diffusion and T2 hyperintensity within the splenium and typically resolve after cessation of carbamazepine therapy.

References:

Brugnoletti F, Morris EB, Laningham FH, et al. Recurrent intrathecal methotrexate induced neurotoxicity in an adolescent with acute lymphoblastic leukemia: Serial clinical and radiologic findings. Pediatr Blood Cancer. 2009;52(2):293295. doi:10.1002/pbc.21764

 

 

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ii

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(45) Submission ID#756075Neuroimaging Manifestations of Epidermal Nevus SyndromeSubmitter: Andrea De Vito – Ospedale San Gerardo, Monza

Author(s)

Andrea De Vito

Ospedale San Gerardo, Monza

Hisham Dahmoush

Lucile Packard Children's Hospital, Stanford

Alireza Radmanesh

NYU Langone Health, New York

Ajay Taranath

Women's and Children's Hospital, North Adelaide

Sniya Sudhakar

Great Ormond Street Hospital, London

Kshitij Mankad

Great Ormond Street Hospital, London

Submission TopicBrain - Other

Abstract

Objective(s): To provide a comprehensive review of the neuroimaging findings seen in 9 children with Epidermal Nevus Syndrome (ENS), a rare neurocutaneous disorder. The imaging findings are correlated with clinical manifestations. A review of the literature is also presented.

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Learning Points: (1) ENS represents a spectrum of distinct disorders rather than a single disease entity. The typical dermatological finding is of a benign overgrowth of the embryonal ectoderm resulting in a raised skin lesion, which may be smooth or wart-like. The spectrum includes entities like Nevous Sebaceous syndrome, Keratinocytic Nevus Syndrome, CHILD syndrome, Phakomatosis Pigmentokeratotica and Nevus Comedonicus Syndrome. (2) The characteristic neuroimaging finding is of hemimegalencephaly- both supratentorial and infratentorial; others findings include cerebellar heterotopias, intracranial and intraspinal lipomas, intracranial vascular malformations as well as neoplasms such as medulloblastoma. (3) Differential diagnoses for ENS would include other overgrowth phenomena such as disorders of the mTOR pathway mutation as well as cerebrovenous metameric syndromes such as cutis marmorata  telangiectica congenital, or to an extent Sturge Weber syndrome.

Discussion: ENS is a rare spectrum of neurocutaneous disorders, all characterized by the presence of different types of epidermal nevi with associated extracutaneous manifestations. CNS symptoms ranging from headaches, epilepsy, focal motor deficits and developmental delay are common and ocular, skeletal and urogenital findings can be associated. Intracranial involvement is best evaluated with MR imaging and neuroimaging findings range widely, with the most common finding being hemimegalencephaly. Cerebellar involvement is also frequently associated. Rarer findings include intracranial/intraspinal lipomas, vascular anomalies and neoplasms.  Clinical expression of ENS is based on genomic mosaicisms involving the Ras/MAPK signaling pathways.

Reference:

1) Happle R. Epidermal nevus syndromes. Semin Dermatol 1995;14:11121.

2) Zhang W, Simos PG, Ishibashi H, et al. Neuroimaging features of epidermal nevus syndrome. AJNR Am J Neuroradiol 2003;24:146870.

3) Asch S, Sugarman JL. Epidermal nevus syndromes: New insights into whorls and swirls. Pediatr Dermatol 2018;35:219.

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(46) Submission ID#756077Intraoperative MRI for Epileptogenic FocusSubmitter: Jorge Lee Diaz – LeBonheur Children's Hospital

Author(s)

Jorge A. Lee-Diaz, M.D

Assistant Professor of Radiology/ Pediatric Neuroradiologist

LeBonheur Children's Hospital

Asim Choudhri, M.D

Le Bonheur Children's Hospital

Adeel Siddiqui, M.D

LeBonheur Children's Hospital

Submission TopicBrain - Epilepsy

Abstract

Intraoperative MRI (iMRI) is a desirable tool for many seizure surgeries, including probe placement for seizure recording, epileptogenic focus resection, and intraoperative laser ablation, because it gives the confidence of the correct placement and complete resection/ablation of the epileptogenic focus.

 

Objective

1. To highlight the advantages of iMRI for procedures related to seizure control, including resection, probe placement, and laser ablation.

 

Learning points

1. Difference between epileptogenic focus in pediatric and adult patients.

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In pediatric patients is important to consider congenital malformations and phacomatosis, some of them focal, that can be successfully approached with the help of iMRI. Tumors can be identified in both groups and can be the cause of epilepsy.

 

2. Understanding of the technique

The protocol includes T1 STEALTH, contrast injection and T2 weighted images in multiple planes. The availability to use almost any diagnostic sequence makes this procedure versatile, but we have to take in consideration the operation room and anesthesia time. Special situation is laser ablation, because the T1 weighted image has to be repeated multiple times, and images are acquired before, during, and after the procedure.

 

3. Discussion of key cases that will illustrate the how we do it, including: Complete resection of tumor, probe placement, and laser ablation of gray matter heterotopia.

 

Discussion

1. How and when to use iMRI

Safety is the main concern. Everyone and everything in the room at the moment of iMRI request should be MRI safe, including patient and staff. For tumor resection, iMRI should be used whenever is available and doesnt prolong unnecessarily the surgery and anesthesia time. Every case should be individually evaluated to choose the best treatment for the patient (including laser ablation).

2. The advantages of iMRI compared to post-operative MRI.

In the case there is residual tumor, it can be used as a road map (STEALTH) for further resection. It can evaluate for possibly fixable acute complications. Avoids the need of a post-operative MRI and all the risk involved with the procedure and new anesthesia.

3. The future of iMRI and epilepsy surgery.

The demand on using this device for evaluation of degree of tumor resection is increasing. It gives a cutting-edge advantage on treatment. For procedures like laser ablation is almost imperative.

 

References

A.F. Choudhri, P. Klimo, T.S. Auschwitz, M.T. Whitehead and F.A. Boop. 3T Intraoperative MRI for Management of Pediatric CNS Neoplasms.  American Journal of Neuroradiology December 2014, 35 (12) 2382-2387

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(47) Submission ID#756091MAKING SENSE of MTOR: An Introduction to mTOR-opathiesSubmitter: Benjamin Sawatzky – University of Wisconsin

Author(s)

Benjamin Sawatzky, M.D.

Fellow

University of Wisconsin

Justin Brucker, M.D.

Faculty

University of Wisconsin

Submission TopicBrain - Developmental

Abstract

Objectives:

1. To review the systemic and neuroradiologic manifestations of mTOR-opathies.

2. To introduce the reader to the highly important PI3K-AKT-mTOR pathway, with an emphasis on its role in generating related disorders of tissue development.

3. To provide a relatively simplified framework for understanding the otherwise complex realm of mTOR-opathies, through review of their common cell-signaling pathways.

 

Learning Points:

Illustrate the signaling pathway with cases of mTOR-opathies at each step along the way with relevant imaging including:

Multifocal Type II cortical dysplasias (mTOR)

Tuberous sclerosis (TSC 1/2)

Proteus syndrome (AKT1)

PTEN hamartoma syndrome, Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome (PTEN)

PIK3CA-Related overgrowth syndrome, CLOVES (PIK3CA)

Neurofibromatosis type I (RAS)

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Discussion:

The PI3K-AKT-mTOR pathway is a major regulator of cell growth, survival, proliferation, and differentiation throughout all parts of the body.

Dysregulation of the PI3K-AKT-mTOR pathway will lead to the overgrowth in a multitude of different tissue types, and potentially oncogenesis.

mTOR-opathies exemplify the diverse clinical manifestations of mTOR pathway dysregulation.

The PI3K-AKT-mTOR pathway allows for a central framework with which to understand these diverse conditions, and offers up potential targets for tailored therapy.

 

References:

1. Gursoy S and Ercal D. Genetic Evaluation of Common Neurocutaneous Syndromes. Pediatric Neurology, 2018; 89: 3-10.

2. Vahidnezhad H, Youssefian L, and Uitto J. Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities. Journal of Investigative Dermatology, 2016; 136: 15-23.

3. Keppler-Noreuill KM, et al. Somatic Overgrowth Disorders of the PI3K/AKT/mTOR Pathway & Therapeutic Strategies. Am J Med Genet Semin Med Genet., December 2016; 172(4): 402-421.

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(49) Submission ID#756157Usual and Unusual Pediatric Brain Tumors: Diffusion and Perfusion-weighted Imaging and PitfallsSubmitter: Toshio Moritani – University of Michigan

Author(s)

Michael Lee, MD

Radiology Resident

University of Michigan

Toshio Moritani, MD, PhD

Professor

University of Michigan

Submission TopicBrain - Tumors

Abstract Objectives:Emphasize complementary role that advanced MRI techniques such as diffusion and perfusion weighted imaging plays in usual and unusual pediatric brain tumors in addition to conventional MRIReview characteristics and features of diffusion and perfusion weighted imaging of various types of pediatric brain tumorsIdentify potential pearls and pitfalls when interpreting diffusion and perfusion weighted imaging in the setting of pediatric brain tumors

Learning points: Overview of the complementary roles of perfusion and diffusion-weighted imaging in pediatric brain tumorso Perfusion: dynamic susceptibility contrast (DSC) and dynamic contrast-enhanced (DCE)o Diffusion and ADC mapCharacteristics of diffusion and perfusion-weighted imaging of various types of pediatric brain tumorsPilocytic/pilomyxoid astrocytomaAngiocenteric gliomaAstroblastomaSubependymal giant cell astrocytomaDiffuse midline gliomaOligodendrogliomasEpendymomaMedulloblastomaOther embryonal tumors

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Discussion:Pediatric brain tumors account for leading cause of morbidity and mortality in pediatric patient population. Imaging evaluation for pediatric brain tumor can be challenging with nonspecific imaging features. While conventional MRI provides important information such as tumor location and size, advanced MRI techniques such as diffusion and perfusion weighted imaging play complementary roles, as described in the methods section. After viewing this exhibit, the reader will be familiar with the technical aspect and complementary roles of diffusion and perfusion-weighted imaging in usual and unusual pediatric brain tumors, their imaging features, and the pearls and pitfalls to make accurate diagnosis and assessment.

References1.Horger M, Vogel MN, Beschorner R, Ernemann U, Worner J, Fenchel M, et al. T2 and DWI in pilocytic and pilomyxoid astrocytoma with pathologic correlation. Can J Neurol Sci. 2012;39(4):491-8.2.Goo HW, Ra YS. Advanced MRI for Pediatric Brain Tumors with Emphasis on Clinical Benefits. Korean J Radiol. 2017;18(1):194-207.3.Ho CY, Cardinal JS, Kamer AP, Lin C, Kralik SF. Contrast Leakage Patterns from Dynamic Susceptibility Contrast Perfusion MRI in the Grading of Primary Pediatric Brain Tumors. AJNR Am J Neuroradiol. 2016;37(3):544-51.

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(50) Submission ID#756179Subpial Hemorrhage in Newborns: An Important Potential SpaceSubmitter: Daniel Murphy – Indiana University School of Medicine

Author(s)

Daniel A. Murphy, Resident, PGY-3

Resident

Indiana University School of Medicine

Thomas A. Reher, MD, MA

Radiology Resident

Indiana University School of Medicine

Nucharin Supakul

Riley Hospital for Children, Indiana University School of Medicine

Submission TopicBrain - Cerebrovascular

Abstract

Objective:

The purpose of this exhibit is to describe the imaging appearances and clinical presentation of neonatal subpial hemorrhage.

Learning Points:

At the end of reviewing this module, participants should be able to:

Identify the anatomy of subpial membrane and space.

Characterize the typical appearance, distribution, imaging findings of subpial hemorrhage.

Describe the clinical setting and presentation of pediatric patients with subpial hemorrhage, and the expected clinical course.

Differentiate subpial hemorrhage from other pathology.

Discussion:

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The pia mater is the innermost membrane, directly contacting the cerebral cortex. This results in a potential space, which is seldom the site of pathology. However, subpial hemorrhage demonstrates a characteristic appearance which radiologists should be aware of in order to differentiate it from blood in other locations and other pathology.

A retrospectively review of pediatric cases with subpial hemorrhage from 2016-2019 and review of the literature were conducted.1 Subpial hemorrhage, like subarachnoid hemorrhage, will enter the sulci. However, unlike subarachnoid hemorrhage, subpial blood is associated with mass effect on the underlying cortex and may demonstrate subjacent cytotoxic edema. It can co-exist with other intracranial hemorrhages (commonly parenchymal, subarachnoid and subdural) in setting of birth related injury.  The subpial hemorrhage is most often in the temporal lobe and in proximity to cranial sutures. This distribution could result from inherent weakness at the suture lines.

Presentation is most commonly in the hours to few days following birth and can be in term infants. Symptoms/signs include seizures and apnea. The patients that had clinical follow-up in the literature and in our experience generally recovered without deficit or delay, with the exception of one patient with multiple significant comorbidities at time of presentation.

Subpial hemorrhage is uncommon, however, it can be seen in healthy term neonates related to birth trauma. It has characteristic imaging features that radiologists should be aware of, so as to better assist the clinical care team and patient. It alone does not portend a poor outcome, despite presenting with apnea and seizures shortly after birth.

References:

1. Huang AH, Robertson RL. Spontaneous superficial parenchymal and leptomeningeal hemorrhage in term neonates. American journal of neuroradiology. 2004;25(3):469-475.

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(51) Submission ID#756201Vision Loss or Diplopia in Kids: What Should Radiologists Look for in the Brain Imaging?Submitter: Nathaniel Manche – Virginia Commonwealth University School of Medicine

Author(s)

Nathaniel Manche

Medical Student

Virginia Commonwealth University School of Medicine

Mohammad Gharavi, MD

Assistant Professor Radiology

Virginia Commonwealth University School of Medicine

Brian Suddarth, MD

Assistant Professor Radiology

Virginia Commonwealth University School of Medicine

Submission TopicBrain - Other

Abstract

Objectives:

1)    Review of a basic anatomic overview of the visual pathway.

2)    A brief review of radiological modalities that are commonly used in the assessment of visual problems such as MRI, CT, MR tractography.

3)    Review of common brain pathologies that can lead to visual problems in the pediatric population along with their radiological manifestations.

Learning Points:

1)    Anatomy of the visual pathway and cranial nerves 3, 4, and 6 on MRI.

2)    Presentation and discussion of specific cases from our pediatric database at the Virginia Commonwealth University such as:

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1. Demyelinating /Autoimmune disease such as Neuromyelitis Optica, Multiple sclerosis, and acute disseminated encephalomyelitis (ADEM).

2. Vascular disease such as aneurysms of the circle of Willis, dural venous thrombosis, and infarcts.

3. Inflammatory and infectious disease such as infection of the petrous apex and orbital cellulitis.

4. A neoplastic process such as leptomeningeal carcinomatosis, sellar/suprasellar tumors, optic pathway glioma, and parenchymal metastasis.

5. Other problems, such as idiopathic intracranial hypertension.

Discussion: 

Different intracranial pathologies such as neoplasms, vascular disease, inflammation/infection,  demyelinating disease, and hydrocephalus can cause visual problems such as vision loss or diplopia by affecting the visual pathway or the upper cranial nerves during their course.

 

References:

1. J. Wippold. Orbits, Vision, and Visual Loss. AJNR January 2010, 31 (1) 196-198

2. Razek AA, Huang BY. Lesions of the Petrous Apex: Classification and Findings at CT and MR imaging. RadioGraphics. 2012;32(1):151-173. doi:10.1148/rg.321105758

3. Yu, F., Duong, T., & Tantiwongkosi, B. (2015). Advanced MR Imaging of the Visual Pathway. Neuroimag Clin N Am 25 (2015) 411424

 

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(52) Submission ID#756231Brain Imaging Findings in Infantile Acute Erythroid Leukemia with CNS Myeloid Sarcoma

Submitter: Sanna Toiviainen-Salo – Helsinki University Childrens Hospital

Author(s)

Sanna Toiviainen-Salo, MD, PhD

Staff Pediatric Radiologist

Helsinki University Childrens Hospital, FINLAND

Submission TopicBrain - Tumors

Abstract

Objective:

To describe characteristics and evolution of brain imaging (US, MRI) in an infant with acute erythroid leukemia and associated myeloid sarcomas in the brain - Pictorial essay

Learning points:

-Myeloid sarcoma is a leukemic mass in organs outside of bone marrow; rare condition that is most commonly encountered in pediatric age group and young adults.

-The imaging appearance of CNS myeloid sarcoma offers a variety of differential diagnosis and, especially If presenting prior to the diagnosis of leukemia, risks of lacking timely correct diagnosis.

-Acute erythroid leukemia (AER) is a rare form of acute myeloid leukemia accounting less than 5 % of acute myeloid leukemia.

-There are only few reports of infants with AER and paucity of reports with associated CNS myeloid sarcoma.

Discussion:

We describe sequential CNS imaging (US, MR) features and their evolution over time prior to and after diagnosis& therapy in an infant with acute erythroid leukemia with associated myeloid sarcomas in the brain. The variable appearance of myeloid sarcoma in CNS in children and the importance of clinical context  will be adressed.

 

References

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1. Boddu P, Benton CB, Wang W, Borthakur G, Khoury JD, Pemmaraju N. Erythroleukemia-historical perspectives and recent advances in diagnosis and management. Blood Rev. 2018 Mar;32(2):96-105. doi: 10.1016/j.blre.2017.09.002. Epub 2017 Sep 18. Review. PubMed PMID: 28965757; PubMed Central PMCID: PMC5857409. 

2. Cervantes GM, Cayci Z. Intracranial CNS Manifestations of Myeloid Sarcoma in Patients with Acute Myeloid Leukemia: Review of the Literature and Three Case Reports from the Author's Institution. J Clin Med. 2015 May 21;4(5):1102-12. doi:10.3390/jcm4051102. Review. PubMed PMID: 26239467; PubMed Central PMCID: PMC4470219.

3. Manresa P, Tarín F, Niveiro M, Tasso M, Alda O, López F, Sarmiento H, Verdú JJ, De Paz F, López S, Del Cañizo M, Such E, Barragán E, Martirena F. A Rare Caseof Pure Erythroid Sarcoma in a Pediatric Patient:

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(53) Submission ID#756257Genetic Etiologies in Childhood Arterial Ischaemic Stroke: Imaging Insights

Author(s)

Asthik Biswas

Clinical Fellow, Neuroradiology

The Hospital for Sick Children

Manohar Shroff

The Hospital for Sick Children

Mahendranath Moharir

The Hospital for Sick Children

Pradeep Krishnan

The Hospital for Sick Children

Submission TopicBrain - Cerebrovascular

Abstract

Objectives

The goal of this educational exhibit is to review monogenic causes of paediatric stroke, briefly outline features and demonstrate imaging findings of some of these disorders.

Learning points

Imaging findings and presentation of the following proven genetic causes of stroke will be demonstrated: ACTA2, COL4A1, NF1, JAG1, ELN , PCNT, RNF213, ADA, YY1AP1, trisomy21 and GLA3.

Discussion

Important clues to a single gene disorder being the causative factor of childhood AIS include positive family history, presence of multi-organ involvement (ocular, cutaneous, musculoskeletal, vascular), and in some cases the pattern on imaging. Identification of imaging pattern aids in guiding genetic testing.

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References

1. Munot P, Crow YJ, Ganesan V. Paediatric stroke: genetic insights into disease mechanisms and treatment targets. Lancet Neurol. 2011 Mar;10(3):26474.

2. McCrea Nadine, Fullerton Heather J., Ganesan Vijeya. Genetic and Environmental Associations With Pediatric Cerebral Arteriopathy. Stroke. 2019 Feb 1;50(2):25765.

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(54) Submission ID#756298Changes on EEG: A Primer to the Interpreting Neuroradiologist!Submitter: Wilson Chavez – Boston Medical Center

Author(s)

Michael Wasserman, MD

Boston University Medical Center

Wilson A. Chavez, MD

Research Coordinator

Boston Medical Center

Mugdha Mohanty, MD

University of Massachusetts

Rinat Jonas, MD

Boston University Medical Center

Bindu Setty, MD

Boston University Medical Center

Submission TopicBrain - Epilepsy

Abstract

OBJECTIVES:

1. Explain classic epileptiform patterns and their typical clinical presentation.

2. Review MRI findings and EEG patterns encountered in common/uncommon clinical conditions

3. Discuss classic electroclinical syndromes for which MRI may not be indicated, primarily a normal MRI

LEARNING POINTS:

1. Introduce basics of EEG and its utility to the radiologists

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2. Describe MRI findings and EEG patterns

1. Structural abnormalities: polymicrogyria, gray matter heterotopia, focal cortical dysplasia, mesial temporal sclerosis, and lissencephaly

2. Syndromic patterns: benign rolandic epilepsy, childhood epilepsy with occipital paroxysm, Lennox-Gastaut syndrome, West syndrome, tuberous sclerosis complex, and Sturge-Weber syndrome

3. Infection: Creutzfeldt-Jakob disease, hydatid cyst, encephalitides

4. Tumor

5. Stroke/Demyelinating diseases

6. Trauma

3. Recognize the Pearls and Pitfalls of EEG

DISCUSSION:

1. Electroencephalography (EEG), a principal tool in the practice of clinical neurology, is a measure of the electrical activity from the cerebral cortex. EEG is useful to differentiate between focal and generalized seizures, localizing epileptogenic focus, or identifying specific patterns, also useful in the evaluation of coma/altered mental status (1).

2. MRI and EEG are complementary modalities in identifying a possible cause for seizures, whereas MRI primarily furnishes anatomical information as a snapshot in time, EEG captures electrical information over time. The presence of focality on EEG can direct MRI to look for subtle focal abnormalities such as focal cortical dysplasia, or a tumor. Both are essential tools in the evaluation of epilepsy (2, 3).

3. Classic EEG patterns may negate the need for further imaging, while an atypical pattern on EEG warrants evaluation with MRI (1).

REFERENCES:

1. Niedermeyer E. et al. Electroencephalography: Basic Principles, Clinical Applications, and Related Fields. Lippincott Williams & Wilkins. 2005.

2. Bronen RA. Epilepsy: the role of MR imaging. AJR Am J Roentgenol 1992. 159 (6): 1165-74. DOI: 10.2214/ajr.159.6.1442376

3. Friedman E. Epilepsy imaging in adults: getting it right. AJR Am J Roentgenol 2014. 203 (5): 1093-103. DOI: 10.2214/AJR.13.12035

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(55) Submission ID#756365Hypomyelinating Disorders: Radiological Diagnosis and Pattern ApproachSubmitter: Atin Kumar – All India Institute of Medical Sciences

Author(s)

Atin Kumar

Professor

All India Institute of Medical Sciences, New Delhi, India

Jyoti Kumar

Maulana Azad Medical College, New Delhi, India

Biswaroop Chakrabarty

All India Institute of Medical Sciences

Submission TopicBrain - Developmental

Abstract

Objective

Algorithmic approach to diagnose hypomyelinating disorders based upon characteristic white matter changes and specific sites of brain involvement.

 Learning points

Leucodystrophies are a complex group of heritable myelin disorders with varying imaging manifestations. However, the radiological classification is based on pattern and type of white matter involvement. The two broad groups are hypomyelinating disorders and dysmyelinating disorders which can be differentiated on MRI.

This presentation aims to discuss and demonstrate the characteristic imaging features of hyomyelinating disorders and a pattern approach to make specific diagnosis based on involvement of certain regions of the brain. The hypomyelinating disorders have arrested myelination of white matter which shows abnormal mild T2 hyperintense signal which is diffuse, confluent and bilaterally symmetrical. The abnormal areas usually appear iso to mildly hyperintense on T1 weighted images. The appearance of the white matter on MRI could be classified as normal for a child of lesser age. A single MRI in a child more than 2 years of age showing these characteristic features is diagnostic of hypomyelinating disorder.  

The presentation will be done under the following format

Understanding basics concepts of myelination with imaging features on MRI

Recognising characteristic features of hypomyelination and differentiating it from dysmyelination

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Pattern approach to various hypomyelinating disorders

o Pelizaeus Merzbacher (PM) disease

o PM like disease

o 4 H syndrome

o GM1/2 Gangliosidosis

o Fucosidosis

o Hypomyelination with atrophy of basal ganglia and cerebellum

o Hypomyelination with congenital cataract

 Discussion

Hypomyelinating disorders are a distinct group of leucodystrophies with characteristic imaging features on MRI. Recognition of the disorder as hypomyelinating significantly narrows the differential diagnosis. Imaging can help reach a specific diagnosis by delineating characteristic white matter changes and accompanying sites of involvement.

 References

1. Barkovich AJ, Deon S.Hypomyelinating disorders: An MRI approach. Neurobiol Dis. 2016 Mar;87:50-8. 

 Yang E, Prabhu SP. Imaging manifestations of the leukodystrophies, inherited disorders of white matter. Radiol Clin North Am. 2014 Mar;52(2):279-319.

 Legend

Fig 1: Axial T1W and T2W (A,B) MRI images of a 3 year old boy with Pelizaeus Merzbacher disease shows diffuse T2 hyperintense signal of the entire white matter which is isointense on T1W image. Axial T1W and T2W MRI images (C,D) of a different 3 year old child with GM1 gangliosidosis shows diffuse hypomyelination of white matter with swollen basal ganglia with abnormal signal changes.

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(56) Submission ID#756446Girl with Pelizaeus Mertzbacher Disease Due to Duplication of Proteolipid Protein 1 (PLP1) Gene: A Case Report Submitter: sulaiman almobarak – LHSC

Author(s)

sulaiman almobarak

clinical fellow

LHSC

Michael T. Jurkiewicz, MD, PhD

Neuroradiologist

London Health Sciences Centre

Asuri Prasad

LHSC

Submission TopicBrain - Developmental

Abstract

Objectives: To provide clinical, radiological, and molecular diagnostic correlation of a hypomyelinating white matter disorder presenting in a female infant with developmental delay.

Learning points:

A two and half-year-old girl, born full term, of a non-consanguineous union presented with developmental delay. At birth, she was noted to be floppy with apneic spells and treated briefly in the NICU.  At age 3 months she developed nystagmus. Motor delays were prominent; head control at 5-6 months, sitting at 20 months, crawling, standing with support 24 months. She remains nonverbal, communicating with signs.

Examination: Generalized low tone, central and appendicular hypotonia, gaze evoked nystagmus both eyes, no clear facial dysmorphic features, no neurocutaneous stigmata, head circumference at 50 months was 45 cm (50 percentile). Deep tendon reflexes were preserved without spasticity or dystonia.

MRI head: Diffuse changes noted; markedly delayed myelination, with T1-weighted images demonstrate abnormal hypointensity and volume loss in the white matter, most prominent in the frontal lobes. T2-weighted images demonstrate abnormal hyperintensity throughout the white matter.

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Genetic assessment: A chromosomal microarray (CMA) disclosed a Xq22.1 q23 duplication of uncertain significance of about 15.4 MB size involving 73 OMIM genes, in which the PLP1 gene is fully duplicated. Parental microarray studies were negative suggesting a de-novo change. X-inactivation study disclosed a random pattern of X inactivation.

Discussion: PelizaeusMerzbacher disease (PMD) is a rare X-linked central nervous system disease involving the proteolipid protein 1 (PLP1) gene on Xq22.1, with various PLP1 mutations, including duplications, point mutations, and deletions, leading to oligodendrocyte dysfunction and impaired myelination. [1, 2]. PMD is rare in females, and can occur when skewed X inactivation takes place. However, our patient developed symptoms associated with PMD in early life with impressive hyoyelination features on neuroimaging[3].Molecular diagnosis confirms a de-novo copy number duplication affecting the PLP1 gene.  Since the change is de-novo, neuroimaging features provide the supporting data to confirm the diagnosis PMD. 

References: Sistermans EA, de Coo RF, De Wijs IJ, Van Oost BA. Duplication of the proteolipid protein gene is the major cause of PelizaeusMerzbacher disease. Neurology. 1998 Jun 1;50(6):1749-54.Garbern JY. Pelizaeus-Merzbacher disease: genetic and cellular pathogenesis. Cellular and Molecular Life Sciences. 2007 Jan 1;64(1):50-65.Steenweg ME, Vanderver A, Blaser S, Bizzi A, De Koning TJ, Mancini GM, Van Wieringen WN, Barkhof F, Wolf NI, Van Der Knaap MS. Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain. 2010 Sep 27;133(10):2971-82.

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(57) Submission ID#756511Punctate White Matter Lesions MimicsSubmitter: Julija Pavaine – Royal Manchester Children's Hospital

Author(s)

Julija Pavaine

Consultant Paediatric Neuroradiologist

Royal Manchester Children's Hospital

Charles Raybaud

Honorary Staff Neuroradiologist, Emeritus Professor

The Hospital for Sick Children (SickKids), University of Toronto

Submission TopicBrain - Developmental

Abstract

Objective:

Punctate White Matter Lesions (PWML) and their sequelae are often confused with other types of White Matter Damage (WMD). We aimed to explain MR imaging distinction between PWML and other WMD based on cerebral cortex histogenesis and disparate pathogenesis.

Learning Points:

PWML mimics are ischemia, Periventricular Leukoencephalomalacia (PVL), hemorrhagic lesions, calcifications and abscesses. PWML can be distinguished from other WMD by their particular appearance, location, and evolution1. PWML should be understood as a lesser form of the non-cystic Periventricular White Matter Injury (PWMI), with a similar pathogenesis: pre-oligodendrocytes injury with associated microglial activation2.

Discussion:

The most common PWML mimics are ischemia and PVL. In neonates with Congenital Heart Disease (CHD) PWML could be confused with ischemic lesions. Panigrahy group reported 42% term infants with CHD having PWML. In acute stage PWML and PVL show diffusion restriction, however PVL-like ischemia is T1 hypointense, T2 hyperintense due to cytotoxic edema and extends to the ventricular wall, while PWML show T1 hyperintensity, faint T2 hypointensity and do not reach ventricular surface. Restricted diffusion in PWML typically persists longer than in ischemia, up to 2 weeks or more, reflecting hypercellularity of infiltrated activated microglia along the congested deep medullary veins. PVL may destroy subplate (SP) while PWML

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remain within the intermediate zone (IZ) or at the SP and IZ junction. On late imaging, confluent PWML may be confused with diffuse PVL, because confluent PWML involves entire IZ with resultant hypomyelination. Isolated and linearly arranged PWML do not leave residual abnormality. PWML and PVL however may coexist.

Absence of susceptibility artifacts on GRE-T2* or SWI differentiates isolated or linearly arranged non-hemorrhagic PWML from small perivenous bleeds in IZ without associated Intra-Ventricular Hemorrhage (IVH), and from small focal Periventricular Venous Hemorrhagic Infarction (PVHI).

Isolated and linearly arranged PWML may simulate calcifications which could be rule out based on diffusion restriction in early PWML imaging, their particular anatomic distribution, and absence of susceptibility artifacts for non-hemorrhagic PWML.

In neonates with sepsis, rim-like T1 hyperintense PWML in association with diffusion restriction could be misinterpreted as abscesses. Six neonates (14.6%) out of 41 with PWML in SickKids cohort had culture-proven sepsis. de Vries group revealed 27 neonates (24 %) with culture-proven sepsis out of 112 with PWML.

References:

1. Raybaud C et al. The premature brain: developmental and lesional anatomy. Neuroradiology. 2013;55 Suppl 2:23-40

2. Back SA et al. Maturation-Dependent Vulnerability of Perinatal White Matter in Premature Birth. 2007;38(2 Suppl):724-30

 

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(58) Submission ID#756543Imaging Findings in Encephalocraniocutaneous Lipomatosis: 3 Cases of a Rare Neurocutaneous SyndromeSubmitter: Atin Kumar – All India Institute of Medical Sciences

Author(s)

Atin Kumar

Professor

All India Institute of Medical Sciences, New Delhi, India

Jyoti Kumar

Maulana Azad Medical College, New Delhi, India

Anuradha Dawani

All India Institute of Medical Sciences, New Delhi, India

Poonam Sherwani

All India Institute of Medical Sciences, Rishikesh, India

Manisha Jana

All India Institute of Medical Sciences, New Delhi, India

Bhawana Aggarwal

All India Institute of Medical Sciences, New Delhi, India

Submission TopicBrain - Developmental

Abstract

Objective

 

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To familiarize the reader with imaging features of encephalocraniocutaneous lipomatosis (ECCL)

  

Learning points

 

ECCL (also known as Haberlund syndrome or Fishman syndrome) is a rare congenital but non-hereditary neurocutaneous syndrome which manifests with lesions in skin, eyes and central nervous system. The lesions are typically limited to one side of the cranium, face and brain. The patients often have developmental delay and present with seizures. The characteristic clinical findings include lipomatous hamartomas involving the eyelids and scalp with patchy alopecia (nevus psiloliparus).

 

CT/MRI of the brain shows a gamut of imaging features often limited to one cerebral hemisphere ipsilateral to the side of clinically visible skin and eye lesions. The intracranial imaging manifestations are

 

Ipsilateral intracranial lipoma

Enlargement of occipital horn of ipsilateral lateral ventricle

Widening of subarachnoid spaces

Arachnoid cyst of middle cranial fossa

Lack of normal insular opercularization

Dysplastic cortex in temporoparietal region

Corticopial calcifications

Thinning of corpus callosum

Unilateral ocular calcification

Leptomeningeal angiomatosis

 

Not all features are present in each patient. However a combination of any of the above features should alert to the possibility of EECL.

 

We present CT and MRI imaging findings of 3 cases of ECCL in pediatric population. The imaging findings are discussed in detail. The discussion includes radiological differentials and how to exclude them.

 

Discussion

 

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ECCL is a rare nonhereditary congenital neurocutaneous syndrome. It is important to be familiar with the imaging findings as they are an integral part to making the diagnosis in combination with skin and eye manifestations. These patients are at increased risk of developing gliomas and require close follow up.

 

References

1. Siddiqui S, Naaz S, Ahmad M, Khan ZA, Wahab S, Rashid BA.

            Encephalocraniocutaneous lipomatosis: A case report with review of literature.

            Neuroradiol J. 2017 Dec;30(6):578-582. 

2. Parazzini C, Triulzi F, Russo G, et al. Encephalocraniocutaneous lipomatosis: Complete neuroradiologic evaluation and follow-up of two cases. AJNR Am J Neuroradiol 1999; 20: 173176. 

Legend

Figure 1: T1W (A) and T2W (B) axial MR images at the level of medulla shows a T1 and T2 hyperintense lobulated lesion in the right temporal fossa adjacent to meckels cave consistent with a lipoma. T2W axial image at a cranial level (C) shows enlargement of occipital horn of ipsilateral lateral ventricle, widening of subarachnoid spaces, arachnoid cyst of middle cranial fossa, lack of normal insular opercularization along with dysplastic cortex in temporoparietal region.

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(59) Submission ID#756558Crossing the Borders of MCD Classification: A Case of MOPD Type II with Unexpected Brain AnomaliesSubmitter: Maria Camilla Rossi Espagnet – Bambino Gesù Children's Hospital

Author(s)

Maria Camilla Rossi Espagnet

Bambino Gesù Children's Hospital

Luca Pasquini

Bambino Gesù Children's Hospital

Martina Lucignani

Bambino Gesù Children's Hospital

Antonio Napolitano

Bambino Gesù Children's Hospital

Michaela Gonfiantini

Bambino Gesù Children's Hospital

Chiara Carducci

Bambino Gesù Children's Hospital

Submission TopicBrain - Developmental

Abstract Objective(s): Microcephalic osteodysplastic primordial dwarfism (MOPD) is a rare condition (slender bone dysplasia group of skeletal disorders) divided into three phenotypic types by Majewski et al. MOPD types I and III: variant manifestations of the same entity (TaybiLinder syndrome), MOPD type II: a standalone disorder, the most common among primordial dwarfisms of Majewski (150 individuals over the world.) Based on classification of malformations in cortical development (MCD) by Barkovich et al. (2012), MOPD type II is considered a microcephaly due to reduced proliferation or increased apoptosis: normal brain or oligogyria with preserved cortical structure and thickness. predominantly showing neurovascular malformations. Differently, structural brain abnormalities are common in MOPD type I/III.

To provide a neuroradiologists diagnostic tool of this rare condition.

Learning Points: Epidemiology, natural history, clinical findings, pattern overview of MOPD. Up to date patterns and differential diagnosis, presenting a case of genetically confirmed MOPD type II (24-month old

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girl) showing a peculiar spectrum of brain anomalies, encompassing the classical neurovascular alterations as well as unreported findings, such as MCD outside of the hypoproliferative group.

Discussion: Key diagnostic points of MOPD highlighted. Imaging findings (brain MRI):

classical features of MOPD type II : vascular anomalies (left anterior cerebral artery stenosis persistence of a right embrionary artery, connecting to proximal cavernous ICA to the vertebro-basilar system, suggestive of persistent trigeminal artery, finding has never been reported before in the literature)

non-vascular anomalies: pachygyria (morphometric analysis in our patient compared to 8 age-matched healthy individuals), incomplete development of the Sylvian fissures and dilatation of the posterior horns of the lateral ventricles, hypoplasic corpus callosum, brainstem anomalies.

The most interesting finding in our case was MCD consistent with pachygyria; cortical volume was expected to be reduced compared to healthy individuals, or normal as suggested by previous reports but our morphometric analysis confirmed the unexpected finding of diffuse cortical thickening and pachygyria, highlighting a posterior-anterior (P-A) gradient, features typical of abnormal migration rather than decreased cell proliferation disorders.This evidence points out the complexity of MCD and the limitation of the current classification, which leave space for future reflection on overlapping scenarios.

References:1 Guerrini, R., & Dobyns, W. (2014). Malformations of cortical development: clinical features and genetic causes. The Lancet Neurology, 13(7), 710-726. 

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(60) Submission ID#756590Mind-mapping Paediatric Spinal Cord Myelopathy MRI Patterns and Pathologies - A Logical Visual Approach to Aid UnderstandingSubmitter: Kate Thomas – Betsi Cadwaladr University Health Board, Wales

Author(s)

Kate Thomas, MBChB, BSc

Clinical Radiology Registrar

Betsi Cadwaladr University Health Board, Wales

Julija Pavaine

Consultant Paediatric Neuroradiologist

Royal Manchester Children's Hospital

Submission TopicSpine

Abstract

Authors: Kate Thomas1, Julija Pavaine2,3

Objective:

To use a visual mind map to facilitate understanding of MRI findings in paediatric non-traumatic spinal cord myelopathy.

Learning Points: 

1. Detailed understanding of spinal cord anatomy, specifically the internal grey matter, surrounding white matter tracts and spinal cord vascular supply,  is necessary to provide an anatomically accurate radiological report;

2. Knowledge of typical lesional MR patterns on T2WI and DWI with their evolution, is essential in providing a clinically relevant radiological report;

3. An anatomically accurate and clinically relevant report will narrow the differential diagnoses and direct further appropriate investigations in the diagnostic work-up of non-traumatic spinal cord myelopathy.

Discussion:

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Non-traumatic spinal cord myelopathy can be a daunting topic for paediatric radiologists , and radiology trainees who are not regularly involved in their diagnosis and management. We propose a mind-map schematic that rationalises various different categorisation schemes. The mind-map provides a memorable visual framework for recognising the different MR patterns and their associated pathologies. The understanding is consolidated with the use of real-life paediatric spinal cord myelopathy cases from Royal Manchester Childrens Hospital.

References:

1. Magnetic Resonance Imaging Patterns in Non-traumatic Paediatric Spinal Cord Myelopathy; TG Kelly, VP Mathews, ST Khalil & S Palasis; Neurographics 2019 May/June;9(3):185200.

2. Neuroimaging in Inflammatory and Infectious Diseases of the Spinal Cord; P Demaerel & S Cappelle; In: F Barkhof, R Jager, M Thurnher & R Cañellas (eds): Clinical Neuroradiology 2018; Springer.

3. Spine - Myelopathy; M Thurnher & R Smithius; Radiology Assistant; October 2012. 

1Dr Kate Thomas, MBChB, BSc, Clinical Radiology Registrar, Betsi Cadwaladr University Health Board, Glan Clwyd Hospital, Bodelwyddan, Denbighshire, LL18 5UJ, UK. [email protected]

2,3Julija Pavaine, MD, EDiNR, EDiPNR, Consultant Paediatric Neuroradiologist

2Academic Unit of Paediatric Radiology, Royal Manchester Childrens Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK.

3Division of Informatics, Imaging & Data Sciences, School of Health Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.

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(61) Submission ID#756594A Practical Approach to the Globi Pallidi's T2* Hypointensities in Pediatric Neuroradiology : Diagnosing and Understanding Neurodegeneration with Brain Iron Accumulation (NBIA)Submitter: Charles-Joris Roux – Necker Hospital

Author(s)

Charles-Joris Roux

Pediatric neuroradiologist

Necker Hospital

Nathalie Boddaert

Professor , head of department, medical Imaging

Necker hospital

RAPHAEL LEVY

Necker Hospital

Nayla Nicolas

Pediatric neuroradiologist

Necker hospital

Volodia Dangouloff-ros

Pediatric neuroradiologist

Necker hospital

agnes rotig

Imagine Institut

Arnold Munnich

Imagine Institut

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Isabelle Desguerre

Necker hospital

Submission TopicBrain - Other

Abstract

Objectives   :

Adequate reasoning when confronted to pallidis hypointense signal on T2*/Swan in the paediatric population.Diagnosing a Neurodegeneration with Brain Iron Accumulation (NBIA).Differentiating between the different aetiologies among the NBIA spectrum through an interpretation algorithm

Learning Points

Recognizing a pathological T2* hypointensity in globi pallidi with the help of a consistent clinical data (abnormal movements and psychomotor regression), associated hypointensity on T2-weighted imaging and adequate correlation with the age of the child (versus physiological iron accumulation in pallidi with aging).Confirming that the T2* hypointensity is linked to an accumulation of iron, and not to manganese, copper or calcium by analyzing T1-weighted sequence and/or to the CT-scan.When in presence of NBIA, narrowing the genetic aetiology by following a precise MRI reading grid and define an algorithm :- Search for the « eye of the tiger» sign: PKAN, CoPAN, MPAN- Involvement of other basal ganglia: aceruleoplasminemia, neuroferritinopathy, Kufor Rakeb- Look for a T1 hyperintensity in the substantia nigra: BPAN :- Look for a severe cerebellar atrophy: DNAI (PLA2G6 and REPS1)- In association with leukodystrophy:      - and endocrine disorders: Woodhouse Sakati Syndrom      - and brainstem hypoplasia: FAHN :      - and supratentorial atrophy and hereditary spastic paraplegia : AP4M1

Discussion

Eliminate differential diagnoses of iron accumulation in pallidi such as calcium or manganese.

Search for the « eye of the tiger » sign (PKAN)

Look for involvement of other basal ganglia, abnormalities of white matter, cerebellar atrophy and brainstem, to narrow the aetiology

Finally, a complete MRI algorithm will allow to reach the diagnosis.

References

1. Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation. Drecourt A, Babdor J, Dussiot M, Petit F, Goudin N, Garfa-Traoré M, Habarou F, Bole-

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Feysot C, Nitschké P, Ottolenghi C, Metodiev MD, Serre V, Desguerre I, Boddaert N, Hermine O, Munnich A, Rötig A. Am J Hum Genet. 2018 Feb

2. Neuroimaging features of neurodegeneration with brain iron accumulation. Kruer MC, Boddaert N, Schneider SA, Houlden H, Bhatia KP, Gregory A, Anderson JC, Rooney WD, Hogarth P, Hayflick SJ. AJNR Am J Neuroradiol. 2012 Mar;33(3)

3. Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories. Arber CE, Li A, Houlden H, Wray S. Neuropathol App Neurobiol. 2016 Apr

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(62) Submission ID#756714Acute Necrotising Encephalopathy of Childhood: A Rare Devastating Neurological ConditionSubmitter: Linda Stephens – Royal Manchester Children's Hospital, Manchester, UK

Author(s)

Linda Stephens, MB BCh BAO FRCR

Consultant Paediatric Radiologist

Royal Manchester Children's Hospital, Manchester, UK

Gary McCullagh

Consultant Paediatric Neurologist

Royal Manchester Children's Hospital

Tracy Briggs

Consultant Clinical Geneticist

NW Genomic Laboratory Hub, Manchester Centre for Genomic Medicine

Dipak Ram

Consultant Paediatric Neurologist

Royal Manchester Children's Hospital

Jeen Tan

Consultant Paediatric Neurologist

Royal Manchester Children's Hospital, Manchester, UK

Julija Pavaine

Consultant Paediatric Neuroradiologist

Royal Manchester Children's Hospital

Submission TopicBrain - Other

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Abstract

Objective:

Acute necrotising encephalopathy of childhood (ANEC) is a rare devastating neurological condition with a fulminant course, resulting in poor neurological outcomes. Early recognition prior to the development of parenchymal haemorrhage and localized necrosis with prompt initiation of steroid therapy may help improve outcomes. We aim to identify the key clinical and radiological features of ANEC, and genetic factors that may make children more susceptible to this condition.

 

Learning points:

 

We present three confirmed ANEC cases of paediatric patients with acute encephalopathy and seizures with characteristic MRI findings of symmetrical expansion of the thalami, posterior limb of the internal capsule and brainstem; and focal areas of restricted diffusion and micro haemorrhage in the thalamus in the acute phase (Fig 1). Follow-up imaging show thalamic clefts lined with hemosiderin reflecting injury with petechial haemorrhage. We discuss genetic factors that may have contributed to their condition.

 

Discussion:

 

The most common causative agent in ANEC is Influenza A which may cause injury by direct or immune-mediated mechanisms inducing a cytokine storm with blood-brain barrier damage and resultant oedema, petechial haemorrhages, and necrosis. ANEC may be sporadic without predisposing factors, and familial (Familial ANE-1) which can result in recurrent illness. Heterozygous causative mutations in the RANBP2 gene (2q11-q13) have been described and was identified in in one of our patients. A RANBP2 mutation was not identified in the second patient , and testing is awaited in our third patient.

 

Imaging features overlap with other pathologies and are diverse as the injury evolves. The differential diagnoses include viral etiologies such as Flavivirus and EBV encephalitis; bacterial aetiologies; Vascular (Sinovenous Thrombosis); Metabolic (Leigh Syndrome), Inflammatory and Demyelination.

 

Having a high index of suspicion and recognising imaging features of ANEC in correlation with clinical history and investigations allows the possibility of ANEC to be raised early in the patient pathway so that therapy can be focused and appropriate investigations including genetic testing is performed.

 

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References:

 Auger C., Rovira A. (2018) Acute Disseminated Encephalomyelitis and Other Acute Parainfectious Syndromes. In: Barkhof F., Jager R., Thurnher M., Rovira Cañellas A. (eds) Clinical Neuroradiology. Springer, Cham

Andrea Rossi. Imaging of Acute Disseminated Encephalomyelitis. Neuroimaging Clinics of North America: 18 (2008) 149161.

Wong AM, Simon EM, Zimmerman RA, Wang HS, Toh CH, Ng SH. Acute Necrotizing Encephalopathy of Childhood: Correlation of MR Findings and Clinical Outcome. American Journal of Neuroradiology October 2006, 27 (9) 1919-1923.

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(63) Submission ID#756884Pediatric Skull Base: Development, Variations and Congenital PathologiesSubmitter: Murat Alp Oztek – Seattle Children's Hospital

Author(s)

Murat Alp Oztek, MD

Department of Radiology, Seattle Children's Hospital

Jason Wright, MD

Department of Radiology, Seattle Children's Hospital

Francisco Perez, MD

Department of Radiology, Seattle Children's Hospital

Submission TopicHead and Neck

Abstract

Objective: Skull base development is a complex process that when gone awry can result in pathological conditions such as a basal encephalocele. In addition, pediatric skull base developmental variations on CT and MRI, such as persistent developmental canals, can be mistaken for fractures and bone lesions. The purpose of this educational exhibit is to review skull base development and important pediatric skull base pathologies and anatomical variants with an emphasis on their clinical relevance.

Learning points:

A review of skull base development will be presented and the following cases will be reviewed:

Congenital pathologies of the skull base:

Basal encephalocele

Hypoplastic clivus

Congenital and developmental variations as a cause of potential diagnostic confusion:

Patent foramen cecum

Prominent crista galli

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Canalis basalis medianus

Persistent craniopharyngeal canal

Arrested pneumatization of the skull base

Mineralization/Calcification of the skull base ligaments

Congenital variations indicating a genetic diagnosis:

Clival clefting in CHARGE syndrome

Sphenoid wing dysplasia in NF1

Discussion:

Pathology and variations of the pediatric skull base can cause diagnostic confusion, act as potential pathways for spread of infection, or can point to specific genetic diagnoses. Knowledge of these pediatric skull base findings are necessary for accurate diagnosis, and in some cases, to assess associated risks.

References:

1. Madeline LA, Elster AD. Postnatal development of the central skull base: normal variants. Radiology. 1995 Sep;196(3):757-63.

2. Mattei TA, Goulart CR. The clinical importance of basioccipital developmental  defects. Childs Nerv Syst. 2012 Apr;28(4):501-4; author reply 505. doi:10.1007/s00381-012-1709-9.

3. Connor SE, Tan G, Fernando R, Chaudhury N. Computed tomography pseudofractures of the mid face and skull base. Clin Radiol. 2005 Dec;60(12):1268-79.

 

 

 

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(64) Submission ID#756904Genetics and Imaging Features of Pediatric Pilocytic Astrocytomas: Case Based Review Submitter: Mariam Aboian – Yale University

Author(s)

Neeraj Bhatt

Yale University

Mariam Aboian

Assistant Professor

Yale University

Submission TopicBrain - Tumors

Abstract

Purpose:

Pilocytic astrocytomas are WHO Grade I tumors that are located within the posterior fossa, hypothalamus/suprasellar region, optic chiasm, and thalamus.  These tumors have heterogeneous genetic signature including mutations in NF1,  KIAA1549-BRAF fusion, BRAFV600E, less common fusions of BRAF, and mutations in KRAS and PTEN. Some of these mutations have specific imaging features, such as KIAA1549-BRAF fusion is common in the posterior fossa pilocytic astrocytomas.

We plan to review the imaging features of pediatric pilocytic astrocytomas with respect to their molecular signature using case based approach.

 

Approach/Methods:

 

Imaging characteristics of pediatric pilocytic astrocytomas with respect to their genetic signature will be reviewed with respect to their main sites of origin optic chiasm, hypothalamus/suprasellar region, thalamus, and posterior fossa.

 

Findings/Discussion:

 

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Location of pilocytic astrocytomas in the brain has a strong association with the type of mutation that is found within the tumor.  In optic pathway gliomas, majority of the tumors have mutation in NF1 gene.  On the other hand, majority of pilocytic astrocytomas that are centered in the posterior fossa are associated with KIAA1549-BRAF fusion. BRAFV600E mutation is common in supratentorial pilocytic astrocytomas, while mutations in KRAS, FGFR1, FGFR1-ITD, and NTRK fusions have not been demonstrated to have a definitive location within the brain.  

We will present examples of pilocytic astrocytoma in hypothalamus/suprasellar region with BRAFV600E mutation with focus on management of cystic component of the tumor, in posterior fossa with KIAA1549-BRAF fusion, and optic pathway glioma with NF1 mutation. We will also include a case leptomeningeal spread of pilocytic astrocytoma to the spine.

 

Summary/Conclusion:

 

Pediatric pilocytic astrocytomas are heterogeneous in their molecular signature which depends on the location of tumor within the brain.  We will present a case based review of the imaging patterns of common genetic subtypes of pediatric pilocytic astrocytomas and their specific imaging features that affect patient management.

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(65) Submission ID#756942Algorithmic Approach to Diagnosis in the Fetus with Absent Septal LeafletsSubmitter: Stacy Goergen – Monash Health

Author(s)

Stacy K. Goergen, MBBS, FRANZCR, MClinEpi

Director of Research, Monash Imaging; Head, Obstetric MRI, Monash Imaging

Monash Health

Rachel Evans

Monash Health

Soumya Cicilet

Monash Health

Farha Furruqh

Monash Health

Submission TopicFetal

Abstract Objjectives: The septal leaflets originate from the lamina reuniens at 9 weeks of gestation and their presence on prenatal ultrasound from 15 weeks is an important marker of normal forebrain cleavage and development. Absence of the leaflets is associated  with holoprosencephaly spectrum, septooptic dysplasia spectrum, and schizencephaly but also may be an isolated finding in asymptomatic individuals. Normal leaflet formation followed by perforation in the fetus can mimic failed formation but is due to a different group of causes, chiefly high grade ventricular obstruction. Fetal MR plays a key role in facilitating diagnosis these two groups of entities, allowing analysis of the key findings that help to distinguish them. This educational exhibit will provide a step - by -  step algorithmic approach to diagnosis emphasising the importance of evaluation of a small number of critical structures.

Learning Points: 1. Dilated lateral and third ventricles and separated forniceal columns favour perforation rather than failed formation.2. Particular attention should be paid to the position of the massa intermedia, presence of brainstem kinking, cerebellar hypoplasia the butterfly sign of fused mesencephalon / diencephalon,  and the presence of fetal thumb adduction in fetuses with aqueduct stenosis as these findings point to diencephalic - mesencephalic junction dysplasia which is often due to L1CAM genetic variant in XY fetuses.2. Rhombencephalosynapsis is present in up to 10% of fetuses with aqueduct stenosis so particular attention

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to cerebellar morphology is required.3. The milder end of the holoprosencephaly spectrum (septopreoptic dysplasia, mild lobar holoprosencephaly) can be challenging to diagnose prenatally.4. The "five dots" sign on axial T2 single shot images with the pituitary stalk, internal carotid arteries and optic nerves all being similar in size can facilitate the diagnosis of optic nerve / pituitary stalk hypoplasia.5. A "solid"  cavum septum pellucidum may be indicative of mild anterior callosal dysgenesis.

Cases illustrative of all of these teaching points will be displayed along with a summary algorithm flowchart.

Discussion: A systematic approach to the fetus with absent septal leaflets will facilitate correct diagnosis and in particular separation of patients with isolated septal leaflet failure of formation from those with aqueduct obstruction and identification of associated findings that are indicative of prognostically - adverse conditions and / or genetic causes.

References: Stanislavsky A, Goergen S. Echogenic cavum septi pellucidi is associated with mild callosal dysgenesis on postnatal MRI. Australasian Journal of Ultrasound in Medicine. 2019.

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(66) Submission ID#756945Diffusion-weighted Imaging of LeukodystrophySubmitter: Toshio Moritani – University of Michigan

Author(s)

Toshio Moritani, MD, PhD

Professor

University of Michigan

Felix Boucher, MD

Resident

University of Michigan

Submission TopicBrain - Other

Abstract Objectives:Leukodystrophy is a group of inherited disorders disrupting the production and maintenance of normal myelination, often with the initial manifestations presenting during childhood. These diseases demonstrate overlapping imaging features such that differentiating between these entities is a challenge in daily clinical practice for neuroradiologists. The aim of this exhibit it to highlight these conditions, detail the relevant pathophysiology, describe their imaging features with an emphasis on diffusion weighted imaging.Learning Points:Approach to the detection, differentiation, diagnosis and disposition of the various leukodystrophies; CT/MRI, especially diffusion weighted imaging, aids in this process.Underlying pathology and pathophysiology of leukodystrophy affecting diffusion abnormalities (restricted or facilitated)Discussion:Classification of these conditions has traditionally been based on the underlying pathophysiology, cellular organelles, and metabolic pathways/genetics affected and the accumulating biochemical constituents. These conditions can be diagnosed by specific biochemical tests, often from a simple peripheral blood draw. Another helpful classification for these conditions is based on their imaging characteristics on CT/ MRI including diffusion weighted imaging, based on the underlying patterns and distribution of brain involvement, such as white matter only or both grey and white matter. This classification is particularly helpful while refining the differential: abnormalities predominantly affecting the periventricular white matter, subcortical white matter, expansion of sylvian fissures with marked involvement of the globus pallidus (Glutaric aciduria) or involvement of multiple additional, non-white matter, areas, like the basal ganglia and optic nerves (Krabbe disease). Diffusion restriction is likely due to intramyelinic edema, axonal swelling or increased cellularity. Pure intramyelinic edema can be seen in reversible leukodystrophy (phenylketonuria, maple syrup

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disease). Facilitated diffusion is related to increased extracellular matrix, gliosis, and cystic/microcystic changes (vanishing white matter disease).

1.Patay Z. Diffusion-weighted MR imaging in leukodystrophies. Eur Radiol 2005;15:2284 2303.2.Knaap, M. S., & Bugiani, M. Leukodystrophies: A proposed classification system based on pathological changes and pathogenetic mechanisms. Acta Neuropathologica,2017;134(3) 351-382. 3.Moritani T, Smoker WR, Sato Y, Numaguchi Y, Westesson PL. Diffusion-weighted imaging of acute excitotoxic brain injury. AJNR Am J Neuroradiol. 2005;26(2):216-28.

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(67) Submission ID#756947MOMS Trial Impact on Chiari 2 Malformations: Comparison of Prenatal vs Postnatal Repair of MyelomeningocelesSubmitter: Kelly Capel – UW Health Hospitals and Clinics

Author(s)

Kelly W. Capel, MD

Neuroradiology Fellow

UW Health Hospitals and Clinics

Laura Eisenmenger

UW Madison

Justin Brucker, M.D.

Faculty

University of Wisconsin

Eugene Huo

UCSF

Submission TopicFetal

Abstract

MOMS Trial Impact on Chiari 2 Malformations: Comparison of Prenatal vs Postnatal Repair of Myelomeningoceles 

Objectives:

-Review spinal cord defect terminology and normal spinal development 

-Define Chiari 2 malformations

-Outline Chiari 2 imaging findings prenatally on US and fetal MRI

-Explain the in utero myelomeningocele repair procedure

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-Review the MOMS trial and its outcomes

-Compare brain and spine MR imaging of prenatal versus postnatal repair of myelomeningocele 

-Explore complications occurring with in utero surgery

Learning Points:

-Key imaging features are present in patients with Chiari II malformations

-Patients with in utero repair have near-normal brain MRI findings on postnatal imaging while postnatally treated patients have the characteristic imaging findings of Chiari II

-Repairing myelomeningocele prenatally may result in better neurologic function than delayed repair after delivery

-MOMS trial halted prematurely due to improved clinical outcomes

-Main complications occurring with in utero surgery include preterm delivery and uterine dehiscence with postnatal complications including formation of dermoids and epidermoids

Discussion:

Of spinal cord anomalies, myelomeningocele is the most common survivable open neural tube defect. Liveborn infants with myelomeningocele have a death rate of 10%, and those who survive have major disabilities including paralysis and bowel and bladder dysfunction. The MOMS trial (Management of Myelomeningocele Study) explored outcomes up to 12 months of age in patients with prenatal versus postnatal repair of myelomeningocele. Forty percent of patients treated prenatally had shunt placement by 12 months compared with 82% treated postnatally (relative risk, 0.70; 97.7% confidence interval [CI], 0.58 to 0.84).  Due to improved clinical outcomes in patients treated prenatally, the MOMS trial was halted prematurely despite increased procedural risks including preterm delivery and uterine dehiscence. While intrauterine repair of myelomeningoceles is a relatively new procedure performed in very few academic centers throughout the country, increased incidence of these procedures is eminent in the upcoming years. Not only must radiologists differentiate expected findings from complications in postoperative situations, but they must also direct appropriate management when indicated. Gaining familiarity with potential long term complications of in utero surgery, most frequently epidermoids and dermoids, is critical. Therefore, neuroradiologists must feel comfortable evaluating patients who have had prior in utero surgery.

References:

1. Adzick, et al. A Randomized Trial of Prenatal versus Postnatal Repair of Myelomeningocele. NEJM. 2011;364(11):993-1004.

2. Huisman, et al. A. MRI of fetal spinal malformations. JPN. 2012;1(3):211-223. doi:10.3233/PNR-2012-030

3. Kumar, et al. Imaging spectrum of spinal dysraphism on magnetic resonance: A pictorial review. WJR. 2017;8470(4):178-190. doi:10.4329/wjr.v9.i4.178

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(68) Submission ID#756949MR Imaging of Secondary Degeneration in Pediatric CNS Disease

Submitter: Toshio Moritani – University of Michigan

Author(s)

Toshio Moritani, MD, PhD

Professor

University of Michigan

Atsuhiko Handa, MD

Resident

University of Iowa

Submission TopicBrain - Other

Abstract ObjectivesSecondary degeneration following central nervous system disease is a well-known entity among adult patients, and it can be classified into antegrade (Wallerian), retrograde, and trans-synaptic degeneration. In contrast, secondary degeneration among pediatric patients has not been well described in the past literatures, even though they are occasionally seen. The purpose of this educational exhibit is to review the imaging findings of secondary degeneration in pediatric patients. We will demonstrate pertinent neuroanatomy, underlying pathophysiology along with imaging findings of secondary degeneration in an interactive format. We will also discuss differential diagnosis and pitfalls.Learning Points1) Wallerian degeneration and pre-Wallerian degeneration (following hypoxic ischemic encephalopathy (HIE), brain infarct etc)2) trans-synaptic degeneration (following HIE, brain infarct, hemorrhage, mesial temporal sclerosis, and degeneration of Papetz circuit)3) crossed cerebellar diaschisis4) ipsilateral cerebellar diaschisis5) crossed cerebeller atrophy6) hypertrophic olivary degeneration (due to posterior fossa syndrome, cavernoma, opsoclonus-myoclonus syndrome with neuroblastoma)7) basal ganglia/thalamic degeneration secondary to external capsule hemorrhage8) focal splenial lesion of corpus callosum9) vigabatrin related myelinopathy10) central tegmental tract lesionsDiscussion

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The clinical presentation and imaging findings will be described to highlight the approach to reach the correct diagnosis. Pertinent neuroanatomy will also be demonstrated.This educational exhibit will review the imaging features of secondary degeneration in children which have not been well described before. Familiarity with the imaging features and pathophysiology (excitotoxic brain injury, axonal swelling/intramyelinic edema) of secondary degeneration and understanding of pertinent neuroanatomy will facilitate radiologist to reach the correct diagnosis, which may guide the therapy and avoid unnecessary treatment to the pediatric patient.The exhibit will consist of a case-based review covering wide spectrum of pathology such as ischemia, neoplasm, demyelination, degeneration, toxic metabolic, congenital, vascular, and others. Various imaging modalities will be presented, including CT, MRI (including DWI and DTI), and FDG-PET.

Moritani T, Smoker WR, Sato Y, et al. Diffusion-weighted imaging of acute excitotoxic brain injury. AJNR Am J Neuroradiol. 2005 26(2):216-28. Moritani T, Smoker WR, Lee HK, et al. Differential diagnosis of cerebral hemispheric pathology: multimodal approach. Clin Neuroradiol. 2011 21:53-63.Horton M, Rafay M, Del Bigio MR. Pathological Evidence of Vacuolar Myelinopathy in a Child Following Vigabatrin Administration. J Child Neurol 2009 24: 1543-1547

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(69) Submission ID#756969Spinal Cord Injury Without Radiographic Abnormality (SCIWORA) in Pediatric Spinal Trauma

Submitter: Atin Kumar – All India Institute of Medical Sciences

Author(s)

Atin Kumar

Professor

All India Institute of Medical Sciences, New Delhi, India

Richa Yadav

All India Institute of Medical Sciences

Shivanand Gamanagatti

All India Institute of Medical Sciences, New Delhi, India

Submission TopicSpine

Abstract

Objective

The term SCIWORA (Spinal Cord Injury Without Radiographic Abnormality) is used to explain the occurrence of neurological deficits in spinal trauma in the absence of spinal fractures. It is a clinical-radiological condition which occurs most commonly in pediatric age group. The spinal cord in children can show signs of injury without involvement of the spinal column which is quite flexible and allows stretching without fracture.

 

Over the last decade, with the advent of MRI, many different terms like real SCIWORA, SCIWONA, SCIWONET, SCIWOPRA, SCIWORET and SCIWOCTET have been used to further characterise these injuries.

 

The purpose of this exhibit is to identify and define all abnormalities under the term SCIWORA, understand its pathophysiology, present the imaging spectrum and discuss the clinical significance. We shall also define use of appropriate terminology in relation to SCIWORA.

Learning Points

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Understand the correct terminology and its application in practice - SCIWORA, real SCIWORA, SCIWNA, SCIWNET, SCIWOPRA, SCIWORET and SCOWOCTET Study the biomechanics of pediatric spine and pathophysiology of SCIWORAIndication for imaging with MR protocol Spectrum of imaging abnormalities including

Normal MR

Cord edema

Cord contusions

Complete cord transection

Ligamentous and soft tissue injury compressing on the cord

Discal injury/ degeneration compressing upon the cord

Discussion

The terminology and knowledge in SCIWORA has evolved and grown with ability of imaging to identify various abnormalities in SCIWORA. It is important for the radiologist to be aware of the entity, use appropriate terms and convey important imaging findings which would determine the prognosis.

  

References

 

1. Pang D. Spinal cord injury without radiographic abnormality in children, 2 decades later. Neurosurgery 2004 Dec; 55(6):13251343

2. Rozzelle CJ, Aarabi B, Dhall SS, Gelb DE, Hurlbert RJ, Ryken TC, Theodore N, Walters BC, Hadley MN. Spinal cord injury without radiographic abnormality (SCIWORA). Neurosurgery. 2013 Mar;72 Suppl 2:227-33.

 Legend

Fig. 1: T2W (A) and STIR (B) sagittal MR images of cervical spine of a 15 year old child presenting with quadriparesis following a motor vehicle injury shows short segment hyperintense signal changes in the cord at C6 - C7 level. The C6 and C7 vertebral bodies also show marrow edema. No fractures were identified on CT scan done prior to the MRI.

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