A case report of biotin-thiamine-responsive basal ganglia disease
10.3760/cma.j.cn113694-20211115-00810
- VernacularTitle:生物素-硫胺素反应性基底节病1例
- Author:
Guangjun XI
1
;
Jianping ZHANG
;
Feng WANG
;
Lu YU
;
Tingting CAO
;
Suya LI
Author Information
1. 南京医科大学附属无锡人民医院神经内科，无锡 214023
- Keywords:
Epilepsy;
Biotin;
Thiamine;
Biotin-thiamine-responsive basal ganglia disease;
SLC19A3 gene
- From:
Chinese Journal of Neurology
2022;55(8):868-872
- CountryChina
- Language:Chinese
-
Abstract:
Biotin-thiamine-responsive basal ganglia disease is a rare treatable autosomal recessive neurometabolic disorder caused by mutations in SLC19A3 gene, encoding a transporter of thiamine across the plasma membrane. In the present study, a 29-year-old male patient with epilepsy as the first symptom, accompanied by hypokinesia, extraocular muscle paralysis and delayed dystonia was reported. The brain magnetic resonance imaging revealed abnormal symmetrical signals of bilateral caudate nucleus and lenticular nucleus. The patient was diagnosed as biotin-thiamine-responsive basal ganglia disease by gene detection. After treatment with biotin and thiamine, the symptoms were relieved and the brain lesions subsided.
