Biotin-Responsive Basal Ganglia Disease: Case Report and Review of the Literature

被引：16

作者：

El-Hajj, T. I. ^{[2
]}

Karam, P. E.

Mikati, M. A. ^{[1
]}

机构：

[1] Amer Univ Beirut, Dept Pediat & Adolescent Med, Adult & Pediat Epilepsy Program, Med Ctr, Beirut 2020, Lebanon

[2] Amer Univ Beirut, Dept Internal Med, Beirut 2020, Lebanon

来源：

NEUROPEDIATRICS | 2008年 / 39卷 / 05期

关键词：

biotin; biotin-responsive basal ganglia disease; globi pallidi;

D O I：

10.1055/s-0028-1128152

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Biotin-responsive basal ganglia disease is a rare entity of which 10 cases have been reported in the literature. We report a case of biotin-responsive basal ganglia disease with similarities and differences compared to the previously reported cases by Ozand et al. Our case presented much earlier, was milder and responded better to lower doses of biotin, compared to the cases reported previously. Since our case showed differences with those in the literature, it might represent a new entity or a milder form of the same entity.

引用

页码：268 / 271

页数：4

共 11 条

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