成人型Leigh综合征临床、影像学与神经病理学研究(附一例家系报告)

目的总结成人型Leigh综合征临床、影像学与神经病理学特点,并探讨该病发病机制和诊断标准。方法分析1例Leigh综合征的临床表现、MRI特征和脑组织神经病理特点。结果患者II-4男,32岁,出现共济失调15年,智能障碍10年,脑干症状3个月,32岁死亡。其兄Ⅱ-2,13岁发病,表现为共济失调、痉挛步态伴智能损害,27岁死亡。Ⅱ-4患者MRI-T2加权像可见双侧壳核、尾状核、丘脑、中脑及桥脑被盖对称性高信号病灶;行尸检神经病理检查示,前述部位有多发对称性变性坏死,伴髓鞘脱失、胶质增生和毛细血管增生。结论Leigh综合征可于成人期发病,除临床病程特征外,成人型Leigh综合征与婴幼儿型Leigh综合征在临床、影像学与神经病理学特点诸方面具有相似性,成人患者出现Leigh样症候群应考虑成人型Leigh综合征的可能。

A Case Report of Clinical, Neuroimagical and Neuropathological Findings in Adult Leigh Syndrome

Objective To summarize the clinical,neuroimagical and neuropathological features of one case patient with adult Leigh syndrome(LS),and discuss the pathogenesis and diagnostic criteria for adult LS.Methods The clinical manifestations of the patients with adult onset LS were summarized and analyzed,including symptoms and signs,cranial MRI and brain autopsy results.Results This patient was a 32-year old man with a prior 15-year history of ataxia,a 10-year history of encephalopathy and a three months of brain stem dysfunction,resulting in coma.His older brother had onset of ataxic-spastic gait and intellectual impairment at age 13,and died at age 27.On T_(2)-weighted MRI,symmetrical high intensities were detected in bilateral putamens,caudates,thalamus and dosal pon.At postmortem,these lesions showed multiple symmetrical foci of degeneration and necrosis,demyelination,gliosis and capillary proliferation.Conclusions LS may occur in adult life.There are simillarity clinical,neuroimagical and neuropathological features between the infantile onset form and the adult onset form,except for a longer clinical course for latter.Adult LS should be considered when clinical manifestations of LS occurs in adult patients.