中国人MELAS型线粒体脑肌病一例报告及文献复习

The Chinese MELAS type brain mitochondria myopathy 1 case report and literature review

目的 总结中国人MELAS型线粒体脑肌病的临床、神经影像及组织病理学的特点。方法 报告1例MELAS型线粒体脑肌病,复习相关文献,检索出106例确诊的MELAS型线粒体脑肌病。对107例中国人MELAS型线粒体脑肌病的临床、神经影像及组织病理学进行总结。结果 107例MELAS型线粒体脑肌病,男59例,女48例,发病年龄1-40岁。临床表现主要为：癫痫发作（85/107）、头痛呕吐（72/107）、肌无力（49/107）、卒中样发作（23/107）、视物模糊（54/107）、听力异常（37/107）、智力低下落后（53/107）、身材矮小（47/107）、共济失调（6/107）、合并糖尿病（11/107）。所有病人均行头颅MRI检查,病灶累及枕叶（87/107）、颞叶（77/107）、顶叶（64/107）、额叶（17/107）、深部白质（4/107）。53例行头颅CT检查,其中28例基底节钙化（28/107）。1例行MRS,病变区乳酸峰升高。共90例行肌活检,除8例结果阴性外,其余均可见破碎样红纤维（RRF）;SDH染色可见深染破碎样红纤维,27例可见SDH强反应血管（SSV）;24例油红O染色可见RRF内脂滴轻至中度升高,19例COX染色可见部分酶缺失。30例行电镜检测,可见异常线粒体堆积,出现晶格状包涵体或嗜锇小体。结论 中国人MELAS型线粒体脑肌病临床表现多样,主要出现癫痫发作、卒中样发作、头痛、视听异常等,神经影像检查以后头部损害为主,组织病理检查大多可见破碎样红纤维。

Objective： To summarize the clinical, neuroimaging and histopathologicai features of Chinese MELAS type brain mitochondria myopathy. Methods： Report 1 case of MELAS type brain mitochondria myopathy, review related literature, 106 cases which were confirmed MELAS type brain mitochondria myopathy were Be retrieved. Clinical, neuroimaging and histopathology features were sunmmarized of all the 107 cases. Results： There were 59 cases of male, 48 cases of female in the 107 cased of MELAS type brain mitochondria myopathy.The age range was 1 -40 years old.The main clinical features were Seizure （851107） , Headache and Vomiting （72/107） , Gravis （491107） , Stroke-like episodes （231107） , Blurred vision （541107） , Audition abnormalities （371107） , Intelligence retardation （531107） , Short stature （471107） , Ataxia （61107） , Diabetes combined （11/107） . All the patients were examined by head Magnetic Resonance Imaging （MRI） . The lesions involved occipital lobe （87/107） , temporal lobe （77/107） , parietal lobe （641107） , frontal lobe （171107） , deep white matter （4/107） .There were 53 cases examined by head Computed Tomography （CT） , and 28 cases of basal ganglia calcification were involved.There was 1 case examined by Magnetic Resonance Spectroscopy （MRS） , and the lactate peak increased in the lesion area.There were 90 cases examined by muscle biopsy, and Red Ragged Fiber （RRF） were found in 82 cases. Ragged Brown Fibers （RBF） and 27 cases with Strongly SDH-reactive blood Vessel （SSV） were found by succinic dehydrogenase staining.24 cases with mild to moderately elevated lipid droplet were found in RRF by Oil red staining.19 cases with partial enzyme deficiency were found by Cox staining. There were 30 cases examined by electron microscope, abnormal accumulation of mitochondria and crystal lattice-like bodies or osmiophilic inclusion bodies were all be found. Conclusion： There was a variety of clinical features in Chinese MELAS type brain mitochondria myopathy.The main clinical features were Seizure, Stroke-like episodes, Headache and Audition abnormalities etc.The main injury site was found in the posterior brain parenchyma by neuroimaging.RRF was more commonly founded in histopathology examination.