多发性脂肪瘤、酒精中毒和神经病变:Madelung病还是MERRF?  

Multiple lipomas,alcoholism,and neuropathy:Madelung’s disease or MERRF?

作　　者：Schoffer K. Grant I. 田雨灵(译) 

机构地区：[1]Department of Neurology, Royal Brisbane and Women' s Hospital, Herston Road, Herston, QLD 4029, Australia [2]不详

出　　处：《世界核心医学期刊文摘（神经病学分册）》2006年第6期49-49,共1页Digest of the World Core Medical Journals:Clinical Neurology

摘　　要：We report a 51-year-old alcoholic man with a 10-year history of cervical lipomas and progressive symmetrical sensory neuropathy, initially diagnosed with Madelung’s disease, an idiopathic syndrome often attributed to chronic alcoholism. The eventual development of proximal weakness led to pathological and genetic testing which identified a A8344G mutation in the mitochondrial tRNA lysine gene, associated with MERRF (myoclonic epilepsy with ragged-red fibers). This case demonstrates how the varied terminology for this syndrome has resulted in a lack of consistent recognition and assessment for mitochondrial cytopathy.We report a 51-year-old alcoholic man with a 10-year history of cervical lipomas and progressive symmetrical sensory neuropathy, initially diagnosed with Madelung＇s disease, an idiopathic syndrome often attributed to chronic alcoholism. The eventual development of proximal weakness led to pathological and genetic testing which identified a A8344G mutation in the mitochondrial tRNA lysine gene, associated with MERRF （myoclonic epilepsy with ragged-red fibers） . This case demonstrates how the varied terminology for this syndrome has resulted in a lack of consistent recognition and assessment for mitochondrial cytopathy.

关 键 词：多发性脂肪瘤 感觉神经病变 慢性酒精中毒 线粒体tRNA 肌阵挛性癫痫 线粒体细胞病 遗传学检测 破碎红纤维 综合征 

分 类 号：R739.41[医药卫生—肿瘤] R338.3[医药卫生—临床医学]