Radiological findings in a case of type II fucosidosis. A case report.
This paper describes radiological characteristics of the skeleton in a patient suffering from type II fucosidosis. The early symptom of anterior beaking of the vertebral bodies, in combination with mental retardation and angiokeratoma corporis diffusum, can suggest the possibility of type II fucosidosis.
D000293:Adolescent; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging* / Q000201:enzymology; D004186:Disaccharidases / Q000172:deficiency*; D006801:Humans; D008297:Male; D011859:Radiography; D005644:alpha-L-Fucosidase / Q000172:deficiency*
D004186:Disaccharidases; D005644:alpha-L-Fucosidase