儿童线粒体脑肌病伴乳酸酸中毒及卒中样发作诊治体会并文献复习

Experience in diagnosis and treatment of mitochondrial encephalomyopathy with lactic academia and stroke-like eopisodes and literature review

线粒体脑肌病伴乳酸酸中毒及卒中样发作(MELAS)是一种少见的遗传性疾病,临床表现缺乏特异性,极易导致误诊。本研究旨在通过分析1例MELAS患儿的临床症状、神经影像学改变、基因测序结果,以明确诊断MELAS。本例患儿主要表现为头痛、呕吐及视听障碍,身体多毛,2岁后开始出现智力下降、生长发育迟滞;血乳酸(Lac)高于正常水平,头颅MRI示颞顶枕叶脑回样长T_(1)长T_(2)信号影,头颅磁共振血管成像(MRA)未见异常,磁共振波谱分析(MRS)表现为Lac峰升高,N-乙酰天门冬氨酸峰(NAA)下降;基因检测结果为A3243G位点突变。因此,对于头痛、呕吐患儿,同时有多毛、身材矮小、脑发育落后者,若有血Lac升高、头颅MRI发现与血管分布不平行的脑梗塞等表现时,应考虑MELAS可能,MRS有助于早期诊断,基因测序是确诊方法,早期治疗有利于改善预后。

Mitochondrial encephalomyopathy with lactic academia and stroke-like eposides(MELAS)is a rare genetic disease,with a lack of clinical specificity,which can easily lead to misdiagnosis.The purpose of this study was to analyze the clinical symptoms,neuroimaging changes and gene sequencing results of a child with MELAS to make a definite diagnosis of MELAS.In this case,the children mainly showed headache,vomiting and audio-visual impairment,hairy body,mental decline and growth retardation after 2 years of age;blood lactic acid(Lac)was higher than normal,the head MRI showed long T_(1) and long T_(2) signals shadow like cerebral gyrus in the temporal lobe,parieta lobe and occipital lobe,magnetic resonance angiography(MRA)showed no abnormality,magnetic resonance spectroscopy(MRS)showed Lac peak increased and N-acetyl aspartate peak(NAA)decreased,the result of genetic test was A3243G mutation.Therefore,the possibility of MELAS should be considered for children with headache and vomiting,hairiness,short stature,and poor brain development,if combined with increased blood Lac,brain MRI findings and cerebral infarction with uneven vascular distribution.MRS is beneficial to the early diagnosis,genetic sequencing is the way to confirm the diagnosis,early treatment is beneficial to improve the prognosis.