Basal ganglia calcifications in a case of biotinidase deficiency
- 1 August 1988
- journal article
- research article
- Published by Wolters Kluwer Health in Neurology
- Vol. 38 (8) , 1326
- https://doi.org/10.1212/wnl.38.8.1326
Abstract
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.This publication has 1 reference indexed in Scilit:
- Biotinidase deficiency: Initial clinical features and rapid diagnosisAnnals of Neurology, 1985