Severe osteopenia in congenital erythropoietic porphyria.
Congenital erythropoietic porphyria is a rare disorder of porphyrin metabolism. The authors describe a 15-year-old boy in whom the radiologic manifestations of this disorder included the known features of osteopenia, acro-osteolysis, soft-tissue calcifications and widening of the diploic space, as well as the previously unreported findings of severe vertebral compression fractures, thoracic kyphosis, and "salt and pepper" skull.
Laorr
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Department of Radiology, University of California, Davis School of Medicine, Sacramento.
Greenspan
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D000293:Adolescent; D001851:Bone Diseases, Metabolic / Q000000981:diagnostic imaging / Q000209:etiology*; D005598:Fractures, Spontaneous / Q000000981:diagnostic imaging / Q000209:etiology; D006801:Humans; D007738:Kyphosis / Q000000981:diagnostic imaging / Q000209:etiology; D008297:Male; D017092:Porphyria, Erythropoietic / Q000150:complications* / Q000000981:diagnostic imaging; D011859:Radiography; D012886:Skull / Q000000981:diagnostic imaging; D016103:Spinal Fractures / Q000000981:diagnostic imaging / Q000209:etiology; D013904:Thoracic Vertebrae / Q000000981:diagnostic imaging