[一名3岁女童的 Leigh 病]

[Leigh disease in a 3-year-old girl].

作者信息

Kałuza J, Krauze M, Marszał E, Wojczańska-Stanek K, Jamroz E, Szwed-Białozyt B

机构信息

II Katedry i Kliniki Pediatrii Sl. A.M, Katowicach.

出版信息

Neurol Neurochir Pol. 1991 Jul-Aug;25(4):497-500.

PMID:1803261

Abstract

A case of Leigh disease in a 3-year-old girl is reported. The child had regression of the psychomotor development, muscular hypotonia, weak tendinous reflexes, opsoclonus, tremor of the whole body, hypertrichosis, autonomic system disturbances. Laboratory investigations demonstrated raised serum lactic acid level. Postmortem histological examination of the brain confirmed the diagnosis of Leigh disease established before death.

摘要

报告了一名3岁女孩患Leigh病的病例。该患儿出现精神运动发育倒退、肌张力减退、腱反射减弱、眼阵挛、全身震颤、多毛症、自主神经系统紊乱。实验室检查显示血清乳酸水平升高。死后对大脑进行的组织学检查证实了生前确诊的Leigh病。