临床神经病学杂志2017，Vol.30Issue(2)：89-92,4.
线粒体基因T13094C突变致伴颈髓病变的线粒体脑肌病伴高乳酸血症和卒中样发作/Leigh叠加综合征的临床、影像、病理及基因突变特点(附1例报告)
摘要
Abstract
Objective To observe the clinical,imaging,pathological and gene mutation features of mitochondrial gene T13094C mutation caused mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes (MELAS)/Leigh overlap syndrome with cervical spinal lesion.Methods The clinical data of one MELAS/Leigh overlap syndrome patient with cervical spinal lesion was analyzed retrospectively.Results The 14-years-old female patient first presented with numbness and convulsion of both legs.The symptoms were recurrent and progress,and then vomiting,ophthalmoplegia,ataxia,lactate acidosis,irritability,respiratory failure and coma were gradually appeared.At 20 months after onset,she died of status epileptic.The imaging performances were changing of new lesions at bilateral cerebral hemisphere,C2-6 section of the cervical spinal,thalamus,bilateral cerebellum,midbrain,pons,medulla oblongata.The main muscle pathological findings were red rag fibers on Gomri staining,enhanced stained fibers on succinodehydrogenase staining,and dramatic mitochondrion abnormality on electron microscopy.Mitochondrial gene sequencing in blood and muscle showed T13094C heterozygous mutation.Conclusions Mitochondrial gene T13094C mutation caused MELAS/Leigh superposition syndrome showed cervical spinal lesion is rare in mitochondrial disease.The disease course continuous progress to die is different from A3243G gene mutation patients.关键词
线粒体脑肌病伴高乳酸血症和卒中样发作/Leigh综合征/叠加综合征/颈髓病变/T13094C基因突变Key words
mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes/Leigh syndrome/superposition syndrome/cervical spinal lesion/T13094C gene mutations分类
医药卫生引用本文复制引用
刘改玲,张允,李园园,都爱莲..线粒体基因T13094C突变致伴颈髓病变的线粒体脑肌病伴高乳酸血症和卒中样发作/Leigh叠加综合征的临床、影像、病理及基因突变特点(附1例报告)[J].临床神经病学杂志,2017,30(2):89-92,4.基金项目
国家自然科学基金(81200967) （81200967）
上海市卫生和计划生育委员会基金(201540050) （201540050）
