先天性高铁血红蛋白(Met-Hb)血症合并进行性肌营养不良(DMP),国内尚未见报道,最近我们遇见1例,报告如下。病例报告先证者(Ⅳ_5),男,17岁,自幼皮肤紫绀,在当地拟诊为“先天性心脏病”。近3年感下肢乏力,上楼困难,易跌倒,难站立。查体:口唇、颜面及指端青紫,尤以口唇明显,无杵状指,肺(-),心尖区可闻收缩期Ⅱ级杂音,肝脾不大,躯干及四肢肌未见明显肥大及 Congenital methemoglobin (Met-Hb) blood disease complicated with muscular dystrophy (DMP), has not been reported in China, recently we met in 1 case, the report is as follows. Case report proband (Ⅳ_5), male, 17 years old, cyanotic skin since childhood, diagnosed locally as “congenital heart disease ”. Nearly 3 years feeling lower extremity fatigue, difficult to go upstairs, easy to fall, difficult to stand. Physical examination: lips, face and fingertips bruising, especially with obvious lips, without clubbing, lung (-), apex symphony Ⅱ systolic murmur, hepatosplenism, trunk and limb muscle was no significant hypertrophy and