[与 Fahr 病和小脑钙化相关的线粒体脑肌病、乳酸酸中毒和卒中样发作（MELAS）]
[Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (Melas) associated with a Fahr disease and cerebellar calcifications].
作者信息
Younes-Mhenni S, Thobois S, Streichenberger N, Giraud P, Mousson-de-Camaret B, Montelescaut M E, Broussolle E, Chazot G
机构信息
Service de neurologie D (Pr G. Chazot), hôpital neurologique Pierre-Wertheimer, 59 Bd Pinel 69003 Lyon, France.
出版信息
Rev Med Interne. 2002 Dec;23(12):1027-9. doi: 10.1016/s0248-8663(02)00730-0.
INTRODUCTION
Melas syndrome is a mitochondrial disease which corresponds to the association of mitochondrial encephalopathy, lactic acidosis and stroke-like espisodes.
CASE REPORT
The authors report the case of a 39 year-old woman presenting with hearing loss, seizures, visual field deficit, three stroke-like episodes and calcifications of the basal ganglia and cerebellar dentate nuclei. Melas syndrome was suspected and confirmed by muscle biopsy, showing ragged red fibers and the presence of an A3243G mutation of mitochondrial DNA.
CONCLUSION
This clinical, pathological and radiological observation shows that intracerebral calcifications may involve the dentate nuclei of the cerebellum in the Melas syndrome.
引言
线粒体脑肌病伴高乳酸血症和卒中样发作综合征（MELAS）是一种线粒体疾病，表现为线粒体脑病、乳酸性酸中毒和卒中样发作。
病例报告
作者报告了一名39岁女性的病例，该患者出现听力丧失、癫痫发作、视野缺损、三次卒中样发作以及基底神经节和小脑齿状核钙化。怀疑为MELAS综合征，并通过肌肉活检确诊，显示出破碎红纤维以及线粒体DNA的A3243G突变。
结论
这一临床、病理和影像学观察表明，MELAS综合征的脑内钙化可能累及小脑齿状核。
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