CAJ | 학술논문

目的报道1例线粒体DNA G13513A点突变所致线粒体脑肌病伴高乳酸血症和脑卒中样发作(MELAS)/Leigh重叠综合征的临床、影像学、神经病理学改变特点.方法患者为22岁女性,反复出现头痛、视力下降和肢体抽动11年,因癫疴持续状态而死亡.之前多次MRI检查发现大脑皮质大片长T1长T2异常信号,病灶从枕叶开始,逐渐波及顶叶,疾病后期累及双侧基底节区及脑干灰质核团.对患者进行脑局部尸体解剖检查,取肌肉标本进行线粒体基因检查.结果各个脑叶皮质以及双侧纹状体和中脑四叠体可见多灶性层样分布的海绵样改变,出现胶质增生、毛细血管内皮细胞增生以及较多单核细胞反应,其中双侧枕叶和顶叶的皮质全层以及皮质下白质被严重累及.基因检查显示线粒体还原型烟酰胺腺嘌呤二核苷酸脱氢酶5基因存在G13513A点突变.结论 MELAS/Leigh重叠综合征的临床表现以皮质损害为主,影像学改变提示病变先累及大脑皮质,而后累及脑干和基底节区,出现海绵样改变伴随毛细血管增生.
목적 보도1례선립체DNA G13513A점돌변소치선립체뇌기병반고유산혈증화뇌졸중양발작(MELAS)/Leigh중첩종합정적림상、영상학、신경병이학개변특점.방법 환자위22세녀성,반복출현두통、시력하강화지체추동11년,인전아지속상태이사망.지전다차MRI검사발현대뇌피질대편장T1장T2이상신호,병조종침협개시,축점파급정협,질병후기루급쌍측기저절구급뇌간회질핵단.대환자진행뇌국부시체해부검사,취기육표본진행선립체기인검사.결과 각개뇌협피질이급쌍측문상체화중뇌사첩체가견다조성층양분포적해면양개변,출현효질증생、모세혈관내피세포증생이급교다단핵세포반응,기중쌍측침협화정협적피질전층이급피질하백질피엄중루급.기인검사현시선립체환원형연선알선표령이핵감산탈경매5기인존재G13513A점돌변.결론 MELAS/Leigh중첩종합정적림상표현이피질손해위주,영상학개변제시병변선루급대뇌피질,이후루급뇌간화기저절구,출현해면양개변반수모세혈관증생.
Objective To describe the chnical, neuroimagine, pathological and genetic features in a case with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)/Leigh overlap syndrome.Methods The ease was a 22-year-old woman with recurrent headache, loss of visual acuity and general seizures over 11 years.MRI demonstrated symmetrical high T2-weighted signals in occipital and parietal lobes, in the late stage of the disease, the above imagine changes on MRJ were also shown in the bilateral basal ganglion and brainstem.She died of status epilepticus at age of 22.Brain autopsy and mitochondrial DNA (mtDNA) analysis were performed in the patient.Results The main neuropathological findings were muhifocal and lamilar spongiform in the cortex of the whole brain, the basal ganglion and middle brain.Gliosis, macrophagie reaction and capillary endothelial proliferation were observed in these areas.All 6 layers of the cortex and subcortical white matter in occipital and parietal lobes were severely affected.GI3513A mutation was found in the gene of mitochondria encoded NADH dehydrogenase subunit 5 (MTNDS).Conclusions MELAS/Leigh overlap syndrome presents the symptoms predominantly affecting the cerebral cortex.Neuroimagines suggested that the lesion initially involves the cerebral cortex and in the late stage implicates the basal ganglion and the brainstem, possibly caused by pathological changes of spongiform with capillary proliferation in these areas.