Schulz P E, Weiner S P, Belmont J W, Fishman M A
Baylor College of Medicine, Department of Neurology, Houston, TX.
Neurology. 1988 Aug;38(8):1326-8. doi: 10.1212/wnl.38.8.1326.
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.
生物素酶缺乏症会导致生物素缺乏状态，婴儿期会出现共济失调、脱发和皮疹等主要症状。先前关于生物素酶缺乏症患者头部CT的报告未提及基底节钙化。我们报告了首例伴有基底节钙化的生物素酶缺乏症病例。没有可归因于基底节功能障碍的症状。
