Department of Neurology, En Chu Kong Hospital, Taipei County, Taiwan.
J Formos Med Assoc. 2013 May;112(5):283-6. doi: 10.1016/j.jfma.2012.07.019. Epub 2013 Apr 24.
Madelung's disease (multiple symmetric lipomatosis) is a rare disease characterized by abnormal diffuse lipomatosis in proximal upper limbs and neck. Previous reports have shown that this disease is associated with alcoholism, polyneuropathy, mitochondrial disease, and glucose intolerance. Here, we describe a 46-year-old man having Madelung's disease associated with polyneuropathy and symptomatic hypokalemia. He presented with insidious-onset weakness and numbness in lower limbs for 7 years and recent deterioration of symptoms. Proximal weakness improved with potassium supplement. Our observation may extend the phenotype of Madelung's disease to hypokalemic periodic paralysis.
Madelung 病（多发性对称性脂肪瘤病）是一种罕见疾病，其特征为上肢近端和颈部异常弥漫性脂肪瘤病。既往报道显示，该疾病与酒精中毒、多发性神经病、线粒体疾病和葡萄糖不耐受有关。在此，我们描述了一位 46 岁的男性，患有多发性对称性脂肪瘤病，同时合并多发性神经病和症状性低钾血症。他表现为下肢进行性无力和麻木 7 年，近期症状恶化。补钾后近端肌无力改善。我们的观察结果可能将 Madelung 病的表型扩展至低钾性周期性瘫痪。
