多发性对称性脂肪瘤病(Madelung’s病)合并中枢神经系统损害1例报告并文献复习  

Central nervous system damage in multiple symmetric lipomatosis(Madelung's disease)

作　　者：王宪玲[1] 孙永馨[1] 杨延辉[2] 马欣[1] 李存江[1] 贾建平[1] 

机构地区：[1]首都医科大学宣武医院神经内科,北京100053 [2]首都医科大学宣武医院放射科,北京100053

出　　处：《北京医学》2014年第5期350-353,共4页Beijing Medical Journal

摘　　要：目的提高对马德龙病合并神经系统损害的认识。方法对1例马德龙病合并中枢神经系统损害的患者的临床及影像学资料进行分析,并进行线粒体基因的检测。结果患者,男性,34岁,既往长期大量饮酒史,表现为双侧颌下、颈前、上臂、腹部肿物4年,反应迟钝,睡眠增多,双下肢无力半年。神经系统查体显示记忆力、计算力、理解力下降,双侧锥体束征,小脑性共济失调。腹部MRI显示腹壁皮下对称性无包膜的脂肪瘤。头颅MRI显示白质多发异常信号。肌肉活检未见破碎红纤维。线粒体基因检查为阴性。经戒酒,改善高血脂等代谢异常后症状部分好转。结论马德龙病为一种罕见的脂肪代谢异常疾病,可合并中枢神经系统损害。马德龙病的病因,尤其合并神经系统损害的病理生理机制尚需要进一步研究。Objective To improve the understanding of the central nervous system damage in Madelung＇s disease.. Methods A case of Madelung＇s disease with central nervous system involvement was described. The patient presented with cognitive impairment, ataxia and pyramidal tract damage. Results The patient was 34 years old with history of alcohol consumption. Several large symmetric lipomas were found in his cervical, upper-extremities and abdomen. MRI of ab- domen showed a poorly marginated fat-intense mass and the biopsy from lipomas demonstrated the diagnosis of MSL. Serological tests revealed hyperlipidemia, hyperuricemia, liver function abnormalities and hypothyroidism. Brain MRI showed bilateral white matter lesions. The similar changes in brain MRI was not seen in previous reports of MSL. His mitochondrial gene was analyzed and the typical gene mutation associated with MSL such as the A8344G mutation （myoclonus epilepsy and ragged red fibers, MERRF mutation） and multiple deletions were not found. And ragged red fibers RRF was not observed in his muscle biopsy. The treatment including oral thiamine, VitBn, folate, statin, uric acid lowering drugs and abstain from alcohol, was given. His symptoms improved partially. Conclusion The present case indicates that brain can be involved in MSL. The pathogenesis of MSL, especially the cause of brain damage in MSL needs to be further explored.

关 键 词：多发性对称性脂肪瘤病 智能障碍 共济失调 锥体束征 线粒体基因突变 

分 类 号：R589.2[医药卫生—内分泌]