维生素B6依赖型癫痫：临床与治疗方面
Pyridoxine-dependent seizures, clinical and therapeutic aspects.
作者信息
Haenggeli C A, Girardin E, Paunier L
机构信息
Department of Paediatrics, Hôpital Cantonal Universitaire, Geneva, Switzerland.
出版信息
Eur J Pediatr. 1991 May;150(7):452-5. doi: 10.1007/BF01958419.
PMID:1915493
Abstract
Pyridoxine-dependency is a rare autosomal recessive disorder causing a severe seizure disorder of prenatal or neonatal onset, psychomotor retardation and death in untreated patients. Treatment requires life-long supplementation with pyridoxine (vitamin B6). The underlying defect is unknown, and there is no biological marker for the disease. Clinical diagnosis is often delayed and severe neurological sequelae are common. This article summarizes both clinical and therapeutic aspects.
摘要
吡哆醇依赖性是一种罕见的常染色体隐性疾病，可导致产前或新生儿期发作的严重癫痫症、精神运动发育迟缓，未经治疗的患者会死亡。治疗需要终身补充吡哆醇（维生素B6）。潜在缺陷尚不清楚，且该疾病没有生物学标志物。临床诊断往往延迟，严重的神经后遗症很常见。本文总结了临床和治疗方面的内容。
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