Basal ganglia calcifications in a case of biotinidase deficiency.
Biotinidase deficiency leads to a biotin-deficient state, with cardinal symptoms of ataxia, alopecia, and skin rash presenting in infancy. Previous reports of head CTs in patients with biotinidase deficiency did not note basal ganglia calcifications. We report the first case of biotinidase deficiency with basal ganglia calcifications. There were no symptoms referable to basal ganglia dysfunction.
Schulz
P E
PE
Baylor College of Medicine, Department of Neurology, Houston, TX.
Weiner
S P
SP
Belmont
J W
JW
Fishman
M A
MA
D000581:Amidohydrolases / Q000172:deficiency*; D001480:Basal Ganglia Diseases / Q000000981:diagnostic imaging / Q000201:enzymology*; D043523:Biotinidase; D002114:Calcinosis / Q000000981:diagnostic imaging / Q000201:enzymology*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D011859:Radiography
D000581:Amidohydrolases; D043523:Biotinidase