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Society for Pediatric Radiology – Poster Archive
Final ID: Poster #: EDU-073
Narrowing the differential diagnosis in pediatric patients with basal ganglia calcification based on associated musculoskeletal imaging findings
Purpose or Case Report: The purpose of educational exhibit is to summarize the radiological appearances of various conditions causing basal ganglia (BG) calcification in children. The pathogenesis for symmetric BG calcification is diverse and ranges from benign physiological calcifications to a variety of pathological disorders including metabolic, infectious and genetic diseases. We present a practical approach to further narrow the differential diagnosis based on associated musculoskeletal imaging findings in patients with BG calcification.
Parathyroid disorders are the most common causes of pathological BG calcification. In hyperparathyroidism, distinctive subperiosteal bone resorption can be seen in phalanges on hand radiographs. Tapering of the clavicles, brown tumors and salt-and-pepper appearance of the skull are also classic radiographic features. In the Albright hereditary osteodystrophy phenotype of pseudohypoparathyroidism, shortening of the fourth and fifth metacarpals as well as advanced bone age can aid in diagnosis. Tumoral calcinosis is another radiographically distinct disease that can cause BG calcification, characterized in the extremities by periarticular calcific deposits. Cockayne syndrome is a rare autosomal recessive (AR) disorder with 4 overlapping subtypes, all with BG calcification as well as diffuse skeletal abnormalities that become apparent in the toddler years. Carbonic anhydrase deficiency type 2 is another rare AR disorder with intracranial calcification including the BG, as well as osteopetrosis and pathologic fractures. Coat’s plus syndrome has characteristic rock-like intracranial calcifications paired with leukodystrophy and brain cysts. It manifests skeletally with osteopenia, delayed fracture healing, bowing of long bones, scoliosis, midface hypoplasia and femoral head avascular necrosis. Other common conditions such a Down syndrome and HIV, and rare disorders such Fahr's disease, malignant phenylketonuria, and Aicardi-Goutieres syndrome are in the differential diagnosis of BG calcifications.
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Parathyroid disorders are the most common causes of pathological BG calcification. In hyperparathyroidism, distinctive subperiosteal bone resorption can be seen in phalanges on hand radiographs. Tapering of the clavicles, brown tumors and salt-and-pepper appearance of the skull are also classic radiographic features. In the Albright hereditary osteodystrophy phenotype of pseudohypoparathyroidism, shortening of the fourth and fifth metacarpals as well as advanced bone age can aid in diagnosis. Tumoral calcinosis is another radiographically distinct disease that can cause BG calcification, characterized in the extremities by periarticular calcific deposits. Cockayne syndrome is a rare autosomal recessive (AR) disorder with 4 overlapping subtypes, all with BG calcification as well as diffuse skeletal abnormalities that become apparent in the toddler years. Carbonic anhydrase deficiency type 2 is another rare AR disorder with intracranial calcification including the BG, as well as osteopetrosis and pathologic fractures. Coat’s plus syndrome has characteristic rock-like intracranial calcifications paired with leukodystrophy and brain cysts. It manifests skeletally with osteopenia, delayed fracture healing, bowing of long bones, scoliosis, midface hypoplasia and femoral head avascular necrosis. Other common conditions such a Down syndrome and HIV, and rare disorders such Fahr's disease, malignant phenylketonuria, and Aicardi-Goutieres syndrome are in the differential diagnosis of BG calcifications.
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Poster____EDU-073.pdf
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