Ren Haitao, You Chuangang, Han Chunmao
Zhejiang University, Hangzhou, People's Republic of China.
Int J Low Extrem Wounds. 2013 Mar;12(1):30-4. doi: 10.1177/1534734613477660. Epub 2013 Feb 26.
Charcot-Marie-Tooth (CMT) disease is characterized by hereditary sensorimotor polyneuropathy with foot deformity, sensorineural hearing loss, moderate developmental delay, and gait disturbance. CMT presenting with type 2 diabetes and an ulcer has not been reported. This article reports a man who presented with the symptoms mentioned above and also with a leg ulcer and type 2 diabetes. He was diagnosed with CMT disease based on family history and genetic testing. A skin defect in the left leg had manifested for more than 1 year, and results of initial fasting plasma glucose revealed type 2 diabetes. The evolution of these manifestations, coupled with a slowly progressive weakness, numbness, muscular wasting, and sensory impairment, strongly suggested the co-occurrence of 3 different diseases in the same individual.
夏科-马里-图思(CMT)病的特征为遗传性感觉运动性多神经病,伴有足部畸形、感音神经性听力损失、中度发育迟缓及步态障碍。未曾有CMT合并2型糖尿病及溃疡的报道。本文报告一名男性,其出现上述症状,同时伴有腿部溃疡及2型糖尿病。基于家族史及基因检测,他被诊断为CMT病。左腿皮肤缺损已出现1年多,初次空腹血糖检测结果显示为2型糖尿病。这些表现的演变,再加上缓慢进展的肌无力、麻木、肌肉萎缩及感觉障碍,强烈提示同一患者同时患有3种不同疾病。