Marked copper beaten skull appearance and plagiocephaly
Zebra stripe sign – when drug is delivered in cycles, dense bone is formed while treatment is being given. This results in dense stripes across the metaphyses which can be visualized radiographically
Wormian bones are secondary ossification centers within sutural lines. These characteristic locations should allow differentiation from fractures.They occur most frequently in the lambdoid suture. They may present in normal infants up to the age of one year, and may be single or multiple. Associated pathologic entities include osteogenesis imperfecta, cleidocranial dysplasia, and hypothyroidism.Other associations include pyknodysostosis, Down syndrome, progeria, hypophosphatasia, pachydermoperiostosis, otopalatodigital syndrome and Menke’s kinky hair syndrome. This patient had normal variant Wormian bones without an associated diagnosis.
Osteogenesis imperfecta (OI) is a disease of "brittle bones" that is primarily caused by genetic defects in the production of type 1 collagen. More than 200 disease-causing mutations in the genes encoding the component chains of type 1 collagen have been identified.1 OI is a clinically variable disorder that has been classified into 4 major types on the basis of clinical and radiographic findings.
An epileptic syndrome characterized by the triad of infantile spasms, hypsarrhythmia, and arrest of psychomotor development at seizure onset. The majority present between 3-12 months of age, with spasms consisting of combinations of brief flexor or extensor movements of the head, trunk, and limbs.
The pathognomonic chorioretinal lacunae are circumscribed defects in the retinal pigment epithelium and underlying choroid. The chorioretinal lacunae can be smaller or larger than the optic disk. Additional ocular abnormalities include dysplastic or hypoplastic optic disks, chorioretinal and optic nerve coloboma, persistent pupillary membrane, microphthalmia, and, rarely, anophthalmia
Cases in Pediatric Radiology<br />Brian Wells, MSM, MPH<br />
Introduction and Statistics<br />Exciting, evolving aspect of pediatrics<br />In the United States in 2006:<br />377 million diagnostic and interventional radiology exams<br />18 million nuclear medicine exams<br />Usage in the U.S. alone accounted for:<br />~12% of the world’s radiologic procedures<br />~50% of the world’s nuclear medicine procedures<br />
Evolving guidlines<br />Unique from adult<br />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.<br />“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”<br />”Child-size” the amount of radiopharmaceutical used by following the new guidelines<br />*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.<br />
Case 1<br />12 year old male with bicuspid aortic valve <br />Diagnosis? <br />
Aortic coarctation<br />M:F – 2-3:1<br />5% - 8% of all congenital heart defects<br />Bicuspid aortic valve seen in 75%-80% of cases<br />Two types<br />Infantile (pre-ductal) and adult (post-ductal)<br />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.<br />Adult – short segment abrupt stenosis of the post-ductal aorta due to thickening of the aortic media, typically just distal to the ligamentum arteriosum<br />
Aortic coarctation<br />Frequently associated with other congenital defects<br />15%-20% of girls with Turner syndrome<br />VSD<br />Cyanotic congenital lesions (truncus arteriosus, transposition of the great vessels<br />Mitral valve defects<br />Various syndromes<br />All angiography capable of deliniating the coarctation and collaterals (CTA / MRA / DSA)<br />Treatment with excision and end-to-end anastomosis or balloon angioplasty.<br />
Copper beaten skull<br />Prominence of convolutional markings adjacent to underlying gyri<br />Caused by raised ICP from any cause, e.g. craniosynostosis, obstructive hydrocephalus, intracranial masses, etc.<br />Convolutional marking are similar in appearance but a normal finding<br />These are shallower and usually confined to the posterior skull<br />Luckenschadel skull<br />
Cystic fibrosis<br />AR disease affecting exocrine function of lungs, liver, pancreas and small bowel (CFTR gene on 7q31.2)<br />Most common genetic disease affecting European population<br />1 in 2000 to 3500 live births<br />Pulmonary manifestations are among the best known<br />Clinical presentation is with expected recurrent bacterial infection (Pseudomonas, S. aureus/H. influenze in first 6 months, Burkholderia cepacia) and hemoptysis.<br />Chronic cough and expectorate of copious sputum<br />Later in disease – larger volume hemoptysis and pneumothoraces<br />Can be suspected antenatally due to echogenic bowel or genetic testing<br />Diagnosis with sweat test after birth (>60 mEq/L)<br />Treatment with antibiotics, corticosteroids, pancreatic enzyme supplementation (~85%), physiotherapy, lung transplant and others<br />Life expectancy now reaching 40 years of more with therapy<br />
Case 4<br />Child with history of fractures on cyclical bisphosphonates<br />Diagnosis?<br />
Osteogenesis imperfecta<br />Congenital, non-sex-linked, hereditary disorder<br />Inheritance can be AD, AD with new mutation or AR depending on type<br />Incidence: 1 in 12,000 to 15,000 births<br />Types I VIII<br />Hallmark feature is fragile bones that fracture easily. Affects both bone quality and quantity.<br />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)<br />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<br />
Osteogenesis imperfecta<br />Associated forms (rare)<br />Osteoporosis-pseudoglioma syndrome – severe form of OI that also causes blindness<br />Cole-Carpenter syndrome – OI with craniosynotosis and ocular proptosis<br />Bruck syndrome – OI with congenital joint contractures<br />OI / Ehlers-Danlos syndrome – recently identified syndrome featuring fragile bones and extreme ligament laxity<br />
Case 5<br />Child with cyanosis during feeding, tachyapnea and agitation<br />Diagnosis?<br />
Tetralogy of Fallot<br />One of the most common cyanotic congenital heart conditions <br />Accounts for 10% of all congenital heart disease<br />Associated with a deletion on chromosome 21q11 <br />Components: VSD, overriding aorta, right ventricular outflow obstruction, right ventricular hypertrophy<br />Pink tetralogy of Fallot<br />Pentalogy of Fallot<br />
Case 6<br />16 year old female with seizures and chorioretinal lacunae.<br />Diagnosis?<br />
Aicardi syndrome<br />Described in 1961 by French pediatrician Jean Francois Aicardi<br />Rare severe developmental disorder. <br />Results from X-linked dominant defect that is fatal in males and thus is only seen in females (except for rare 47-XXY cases)<br />Typical presentation is<br />Infantile spasms (salaam seizures with typical bowing of the head)<br />Corpus callosum dysgenesis (most consistent feature)<br />Distinctive chorioretinal lacunae (pathognomonic)<br />Mental retardation<br />Most also have severe impediment related to speech<br />No cure. No defined standard course of treatment. <br />Treatment is purely symptomatic and involves management of seizures and programs for the mental retardation.<br />
Retcam photo to left eye showing also showing optic disc coloboma <br />(black arrow) and chorioretinal lacunae nasal to optic disc (white arrow).<br />