伴有MT-ND3基因m.10191T>C突变的Leigh综合征患者的长期存活：一例报告及文献复习
Long survival in patients with leigh syndrome and the m.10191T>C mutation in MT-ND3 : a case report and review of the literature.
作者信息
Levy Rebecca J, Ríos Purificación Gutierrez, Akman Hasan O, Sciacco Monica, Vivo Darryl C De, DiMauro Salvatore
机构信息
Department of Neurology, Columbia University Medical Center, New York, NY, USA.
Neuromuscular Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Centre, University of Milan, 20122 Milan, Italy.
出版信息
J Child Neurol. 2014 Oct;29(10):NP105-10. doi: 10.1177/0883073813506783. Epub 2013 Nov 27.
Abstract
We report an unusual case of Leigh syndrome due to the m.10191T>C mutation in the complex I gene MT-ND3. This mutation has been associated with a spectrum of clinical phenotypes ranging from infant lethality to adult onset. Despite infantile onset and severe symptoms, our patient has survived to early adulthood because of a strict dietary regimen and parental care. This patient is an extreme example of the frequently prolonged course of Leigh syndrome due to this particular mutation.
摘要
我们报告了一例因线粒体复合物I基因MT-ND3的m.10191T>C突变导致的 Leigh 综合征罕见病例。该突变与一系列临床表型相关，范围从婴儿期致死到成年发病。尽管发病于婴儿期且症状严重，但由于严格的饮食方案和父母的照料，我们的患者存活至成年早期。该患者是因这一特定突变导致的 Leigh 综合征病程经常延长的极端例子。
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