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Cases in Pediatric Radiology Brian Wells, MSM, MPH

Pediatric radiology

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Cases in pediatric radiology

Text of Pediatric radiology

  • 1. Cases in Pediatric Radiology
    Brian Wells, MSM, MPH

2. Our Agenda
Four items
Overview of imaging
Imaging statistics
Evolving guidelines
Clinical cases
3. 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 worlds radiologic procedures
~50% of the worlds nuclear medicine procedures
4. 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.
5. Case 1
12 year old male with bicuspid aortic valve
Diagnosis?
6. 7. 8. 9. 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
10. 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.
11. 12. Case 2
3 year old with coronal and sagittal synostosis
Diagnosis?
13. 14. 15. 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
16. 17. 18. Case 3
12 year old male child with fever, expectoration, SOB, poor growth and poor weight gain despite a normal food intake.
Diagnosis?
19. 20. 21. 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
22. Case 4
Child with history of fractures on cyclical bisphosphonates
Diagnosis?
23. 24. 25. 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 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
26. 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
27. Case 5
Child with cyanosis during feeding, tachyapnea and agitation
Diagnosis?
28. 29. 30. 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
31. Case 6
16 year old female with seizures and chorioretinal lacunae.
Diagnosis?
32. 33. 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.
34. Retcam photo to left eye showing also showing optic disc coloboma
(black arrow) and chorioretinal lacunae nasal to optic disc (white arrow).
35. Case 6
36. 37. Thank you!