儿童线粒体脑肌病患者的临床特点和诱发电位研究  

Clinical features and evoked potentials of childhood mitochondrial encephalomyopathy

作　　者：王昕[1] 杨健[1] 李尔珍[1] 王立文[1] 陈倩[1] 朱彦丽[1] 

机构地区：[1]首都儿科研究所神经科,北京100020

出　　处：《中华脑科疾病与康复杂志（电子版）》2012年第1期1-5,共5页Chinese Journal of Brain Diseases and Rehabilitation（Electronic Edition）

摘　　要：目的总结儿童线粒体脑肌病患者的临床及其视、听和躯体诱发电位特点。方法对首都儿科研究所神经科2007年1月至2011年9月经线粒体DNA检测和（或）线粒体酶活性检测和（或）肌肉活检确诊的14例线粒体脑肌病患者的临床资料和视、听、体感诱发电位检查结果进行回顾性分析。结果14例患者，年龄1个月～15岁；婴幼儿期起病者昏迷、惊厥、发育落后、颅神经麻痹（眼外肌麻痹、球麻痹）等症状多见；年长儿起病者慢性头痛、身材矮小、活动耐力差、部分性癫痫发作、视力下降多见，除神经及肌肉系统受累外，1例患者还伴有肾功能不全和垂体前叶功能低下。确诊为线粒体脑肌病伴乳酸酸中毒和卒中样发作（MELAS）5例，年龄10—15岁；Leigh综合征4例，年龄1个月～3岁；肌阵挛性癫痫伴破碎样红肌纤维（MERFF）1例，5岁；Kearns．Sayre综合征（KSS）1例，12岁；未明确分型者3例，年龄5～15岁。视诱发电位检测13例，异常11例。脑干听觉诱发电位检测14例，异常5例（其中Leigh综合征患者检测4例，3例异常）；正中神经体感诱发电位检测7例，3例异常；胫后神经体感诱发电位检测7例，5例异常。结论线粒体脑肌病发病年龄、临床表现及严重程度在不同疾病种类问乃至同种疾病的不同患者间均有较大变异。所有患者均有不同程度和不同感觉传导通路的功能异常，多数患者双侧感觉传导通路均有损害，其中Leigh病患者临床表现最重，诱发电位检查阳性率最高。诱发电位的检查可以为感觉通路病变存在与否提供客观证据，具有临床应用价值。Objective To investigate the clinical features of patients with childhood mitochondrial encephalomyopathy and test the sensory dysfunction of these patients by sensory, auditory, and visual evoked potentials. Methods The clinical features and sensory, auditory, visual evoked potential of 14 patients with mitochondrial encephalomyopathy who were treated in Capital Institute of Pediatrics were analyzed retrospectively, patients were diagnosed by mitochondrial DNA detection and （or） activity of mitochondrial enzyme detection and （or） muscle biopsy. Results Fourteen patients were aged 1 months to 15 years old. Coma, convulsion, mental retardation, cranial nerve palsy （ extraocular palsy, diminished pharyngeal reflex） were the most common symptoms in the infants and toddlers. The most common symptoms in elder children were chronic headache, small stature, short of exercise tolerance, partial seizure, and impaired vision, besides nervous system involvement, 1 patient was aceompained by renal insufficiency and low anterior pituitary function. Five of fourteen patients were diagnosed as mitochondrial encepbalomyopathy with lactic acidosis and stroke-like episodes（MELAS） （aged 10 to 15 years old） , 4 were diagnosed as Leigh syndrome （aged 1 month to 3 years old）, 1 was Kearns-Sayre syndrome（KSS） （aged 12 years old） , 1 was myoclonus epilepsy with ragged red fiber diseasse（MERFF） （ aged 5 years old）, and 3 patients＇ subtype were unclear （aged 5 to 15 years old）. Thirteen of the 14 patients＇ visual evoked potentials were recorded, 11 were abnormal. 5 of 14 patients＇ brainstem auditory evoked potentials（BAEP） were abnormal, and 3 of the 4 Leigh syndrome patients＇ BAEP were abnormal. Seven patients had the somatosensory evoked potential test and 3 patients＇ median nerve somatosensory were abnormal, 5 patients＇ post tibial nerve somatosensory were abnormal. Conclusions The onset age, clinical manifests, severity vary in different subtypes of mitochondrial encephalomyo

关 键 词：线粒体脑肌病 诱发电位 儿童 

分 类 号：R746[医药卫生—神经病学与精神病学]