Cases in Pediatric Radiology

Brian Wells, MSM, MPH

Our Agenda

• Four points– Overview of imaging– Imaging statistics– Evolving guidelines– Clinical cases

Introduction and Statistics• Exciting, evolving aspect of pediatrics• In the United States in 2006:

– 377 million diagnostic and interventional radiology exams

– 18 million nuclear medicine exams– Usage in the U.S. alone accounted for:

• ~12% of the world’s radiologic procedures• ~50% of the world’s nuclear medicine procedures

Radiologic and Nuclear Medicine Studies in the United Statesand Worldwide: Frequency, Radiation Dose and Comparisonwith other Radiation Sources 1950-2007. Metler, FA ea al.Radiology 2009; 253:520-531

Evolving guidlines• Unique from adult• Society of Nuclear Medicine and the Society for Pediatric

Radiology have expanded their pediatric radiation protection initiative by standardizing doses (based on body weight) for 11 nuclear medicine procedures commonly performed in children.

• “Children may be more sensitive to radiation from medical imaging scans than adults. A radiopharmaceutical dose which is too low may risk poor diagnostic image quality. Doses too high may expose the child to unnecessary radiation exposure without benefit”

• ”Child-size” the amount of radiopharmaceutical used by following the new guidelines

*Treves ST, Davis RT, Fahey FH. Administered radiopharmaceutical doses in children: a survey of 13 pediatric hospitals in North America. J Nucl Med 2008; 49(6):1024-7.

Modality Exposure dose

Chest x-ray (AP and lateral) 0.005 mGy

Flat plate of the abdomen 1 mGy

Mammography 0.05 to 0.2 mGy

Barium enema or small bowel series 20 mGy to 40 mGy

Intravenous pyelogram (IVP) 10 mGy to 20 mGy

CT of the head <10 mGy

CT of the chest <10 mGy

CT of the abdomen and lumbar spine 30 to 40 mGy

Average Exposure Amounts by Procedure

1 rad = 0.01 gray (Gy) = 0.01 Sievert (Sv) = 1 rem (roentgen-equivalent man)and 0.001 rad = 1 mrad = 0.01 mGy

Case 1• 12 year old male with

bicuspid aortic valve • Diagnosis?

Aortic coarctation•M:F – 2-3:1

•5% - 8% of all congenital heart defects

•Bicuspid aortic valve seen in 75%-80% of cases

•Two types– Infantile (pre-ductal) and adult (post-ductal)– Infantile characterized by diffuse hypoplasia or narrowing of the aorta

from just distal to brachiocephalic artery to level of ductus arteriosus, typically with discrete area of constriction just proximal to the ductus but distal to the origin of the subclavian artery.

– Adult – short segment abrupt stenosis of the post-ductal aorta due to thickening of the aortic media, typically just distal to the ligamentum arteriosum

Aortic coarctation• Frequently associated with other congenital defects

– 15%-20% of girls with Turner syndrome– VSD– Cyanotic congenital lesions (truncus arteriosus,

transposition of the great vessels– Mitral valve defects– Various syndromes

• All angiography capable of deliniating the coarctation and collaterals (CTA / MRA / DSA)

• Treatment with excision and end-to-end anastomosis or balloon angioplasty.

Case 2

• 3 year old with coronal and sagittal synostosis

• Diagnosis?

Copper beaten skull• Prominence of convolutional markings adjacent to

underlying gyri• Caused by raised ICP from any cause, e.g.

craniosynostosis, obstructive hydrocephalus, intracranial masses, etc.

• Convolutional marking are similar in appearance but a normal finding– These are shallower and usually confined to the posterior

skull

• Luckenschadel skull

Case 3

• 12 year old male child with fever, expectoration, SOB, poor growth and poor weight gain despite a normal food intake.

• Diagnosis?

Cystic fibrosis• AR disease affecting exocrine function of lungs, liver, pancreas and small

bowel (CFTR gene on 7q31.2)

• Most common genetic disease affecting European population

• 1 in 2000 to 3500 live births

• Pulmonary manifestations are among the best known

• Clinical presentation is with expected recurrent bacterial infection (Pseudomonas, S. aureus/H. influenze in first 6 months, Burkholderia cepacia) and hemoptysis.

• Chronic cough and expectorate of copious sputum

• Later in disease – larger volume hemoptysis and pneumothoraces

• Can be suspected antenatally due to echogenic bowel or genetic testing

• Diagnosis with sweat test after birth (>60 mEq/L)

• Treatment with antibiotics, corticosteroids, pancreatic enzyme supplementation (~85%), physiotherapy, lung transplant and others

• Life expectancy now reaching 40 years of more with therapy

Case 4

• Child with history of fractures on cyclical bisphosphonates

• Diagnosis?

Osteogenesis imperfecta• Congenital, non-sex-linked, hereditary disorder

– Inheritance can be AD, AD with new mutation or AR depending on type

– Incidence: 1 in 12,000 to 15,000 births• Types I to VIII• Hallmark feature is fragile bones that fracture easily. Affects both

bone quality and quantity.• Clinical presentation is highly variable, ranging from mild with no

deformity, normal stature and a few fractures (I) to a form that is lethal during the perinatal period (II)

• Type I is commonest with general bone fragility, loose joints, absent to minimal bone deformity, blue, purple or gray sclera, brittle teeth and predisposition to hearing loss

Osteogenesis imperfecta

• Associated forms (rare)– Osteoporosis-pseudoglioma syndrome – severe

form of OI that also causes blindness– Cole-Carpenter syndrome – OI with

craniosynotosis and ocular proptosis– Bruck syndrome – OI with congenital joint

contractures– OI / Ehlers-Danlos syndrome – recently identified

syndrome featuring fragile bones and extreme ligament laxity

Case 5

• Child with cyanosis during feeding, tachyapnea and agitation

• Diagnosis?

Tetralogy of Fallot

• One of the most common cyanotic congenital heart conditions

• Accounts for 10% of all congenital heart disease• Associated with a deletion on chromosome

21q11 • Components: VSD, overriding aorta, right

ventricular outflow obstruction, right ventricular hypertrophy

• Pink tetralogy of Fallot• Pentalogy of Fallot

Case 6

• 16 year old female with seizures and chorioretinal lacunae.

• Diagnosis?

Aicardi syndrome• Described in 1961 by French pediatrician Jean Francois Aicardi• Rare severe developmental disorder. • Results from X-linked dominant defect that is fatal in males and thus is

only seen in females (except for rare 47-XXY cases)• Typical presentation is

– Infantile spasms (salaam seizures with typical bowing of the head)– Corpus callosum dysgenesis (most consistent feature)– Distinctive chorioretinal lacunae (pathognomonic)– Mental retardation– Most also have severe impediment related to speech

• No cure. No defined standard course of treatment. • Treatment is purely symptomatic and involves management of seizures

and programs for the mental retardation.

Retcam photo to left eye showing also showing optic disc coloboma (black arrow) and chorioretinal lacunae nasal to optic disc (white arrow).

Case 6

Today's talk

• Introduction• Guidelines• Clinical cases

• Aortic coarctation• Copper beaten skull• Cystic fibrosis• Osteogensis imperfecta• Tetralogy of Fallot• Aicardi Syndrome

Thank you!

Slides available online at

http://www.slideshare.net/brianwells/newsfeed

http://db.tt/Q9g4y2Z