本文選題：線粒體腦肌病伴高乳酸血癥　切入點(diǎn)：卒中樣發(fā)作綜合征　出處：《臨床兒科雜志》2017年01期

【摘要】：目的探討異卵雙胎兄弟同患線粒體腦肌病伴乳酸血癥與卒中樣發(fā)作綜合征(MELAS)的臨床特點(diǎn)。方法回顧分析1對異卵雙胞胎兄弟同患MELAS病例的臨床表現(xiàn)、實(shí)驗(yàn)室檢查、腦電圖、影像學(xué)、基因檢測結(jié)果及診療過程。結(jié)果先證者,男,7歲時(shí)以間斷頭痛、嘔吐、抽搐起病,既往運(yùn)動不耐受、易疲勞,伴有身材矮小、皮膚多毛,空腹血乳酸值增高,多次視頻腦電圖背景活動慢化,頭顱磁共振成像示隨病情反復(fù)發(fā)作病灶具有遷徙、易變,mtDNA A3243G點(diǎn)突變率34.7%,確診MELAS。同期篩查同胞異卵弟弟A3243G突變率30%,但無臨床癥狀,間隔3年后以抽搐起病。結(jié)論早期基因檢測并篩查家系有助于MELAS的診斷,A3243G突變率高,起病年齡早,臨床癥狀重。
[Abstract]:Objective to investigate the clinical features of maleic encephalomyopathy with lactoacidemia and stroke-like attack syndrome (Mel ASS) in heterozygotic twins.Methods the clinical manifestation, laboratory examination, electroencephalogram, imaging, gene test and diagnosis and treatment of a pair of fraternal twins with MELAS were retrospectively analyzed.Results the proband had intermittent headache, vomiting, convulsion, previous motor intolerance, easy fatigue, short stature, hairy skin, high fasting blood lactic acid value, slow motion of video EEG background when he was 7 years old.Cranial magnetic resonance imaging showed that there was migration of the lesion with recurrent attack, and the mutation rate of mtDNA A3243G was 34. 7%, and MELAS was diagnosed.The mutation rate of sibling heterozygote A3243G was 30%, but had no clinical symptoms.Conclusion early gene detection and screening is helpful to the diagnosis of MELAS with high mutation rate of A3243G, early onset age and severe clinical symptoms.
【作者單位】： 臨沂市人民醫(yī)院兒內(nèi)科;
【分類號】：R746

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