Dubowitz L M, Bouza H, Hird M F, Jaeken J
Department of Paediatrics and Neonatal Medicine, Hammersmith Hospital, London, U.K.
Lancet. 1992 Jul 11;340(8811):80-1. doi: 10.1016/0140-6736(92)90398-m.
The pathophysiology of startle disease (hyperekplexia) is unknown. Hyperactivity of the brainstem reticular formation has been suggested as a cause. We report a newborn infant with classic features of startle disease in whom cerebrospinal fluid (CSF) concentrations of gamma-aminobutyric acid (GABA) were substantially lower than normal during the first weeks of life. She improved greatly on clonazepam treatment. We suggest that the signs of this disorder may be due to a genetic defect or to delayed maturation resulting in low CSF GABA.
惊吓症（易惊症）的病理生理学机制尚不清楚。有观点认为脑干网状结构功能亢进是其病因。我们报告了一名具有惊吓症典型特征的新生儿，其在出生后的头几周脑脊液（CSF）中γ-氨基丁酸（GABA）的浓度显著低于正常水平。她在接受氯硝西泮治疗后有了很大改善。我们认为这种疾病的症状可能是由于基因缺陷或成熟延迟导致脑脊液中GABA含量降低所致。
