Leigh综合征，一种线粒体脑（肌）病。文献综述。

Leigh syndrome, a mitochondrial encephalo(myo)pathy. A review of the literature.

作者信息

van Erven P M, Cillessen J P, Eekhoff E M, Gabreëls F J, Doesburg W H, Lemmens W A, Slooff J L, Renier W O, Ruitenbeek W

机构信息

Department of Child Neurology, University Hospital Nijmegen, The Netherlands.

出版信息

Clin Neurol Neurosurg. 1987;89(4):217-30. doi: 10.1016/s0303-8467(87)80020-3.

DOI:10.1016/s0303-8467(87)80020-3

PMID:3319345

Abstract

Results of a literature survey of 173 patients with Leigh syndrome are presented, with emphasis on signs and symptoms in relation to age at onset, contributions of technical investigations to the diagnosis, pathophysiology, genetic considerations and therapeutic aspects. Based on this study we are of the opinion that it is possible to come to a diagnosis of "most probable Leigh syndrome" durante vitamin on the combination of clinical signs and symptoms, autosomal recessive mode of inheritance, association with a defect of energy metabolism, and CT or MRI abnormalities.

摘要

本文介绍了对173例Leigh综合征患者的文献调查结果，重点关注与发病年龄相关的体征和症状、技术检查对诊断的贡献、病理生理学、遗传学考虑因素和治疗方面。基于这项研究，我们认为，根据临床体征和症状、常染色体隐性遗传模式、与能量代谢缺陷的关联以及CT或MRI异常，有可能在维生素治疗期间做出“最可能的Leigh综合征”诊断。