进行性肌营养不良误诊断为病毒性肝炎的分析

进行性肌营养不良是一种X性连锁隐性遗传疾病,其中以假性肥大型多见,大多有家族史,病程中常伴发肝功能异常。近年来,我科收治了11例因肝功能异常而疑肝炎患儿,符合进行性肌营养不良的诊断标准[1],现报告如下。1资料与方法11例进行性肌营养不良为1998年1月至2005年9月本院儿肝科

Misdiagnosed case analyses: Duchenne type muscular dystrophy was erroneously diagnosed as hepatitis.

Objective To make a correct diagnosis in the early stage and avoid misdiagnosis,we analysed clinical data of patients with Duchenne type muscular dystrophy(DMD).Methods We analysed serum crieatine phosphokinase(CPK),alanine aminotransferase(ALT),aspartate aminotransferase(AST),lactic dehydrogenase(LDH),electromyogram and muscle biopsy data.Results In DMD patients,serum CPK(1 250~3 485 U/L),ALT,AST and LDH level were increased above normal range.Electromyogram showed that there were fibrillation waves and sine waves on left tibialis anterior,quadriceps fermoris muscle and right gastrocnemius muscule in static state,suggesting damage of muscular origin.Microscopical examination results of muscle biopsy specemins as follows: There were muscle fiber swelling,karyomegaly was situated in the center of the cell,the number of nucleuses increased,the number of muscle fibers reduced,there was large quantity of lipid and connective tissue deposit between muscle fibers.Conclusions A detailed analysis found CPK,electromyogram and muscle biopsy may help clinicians to make an early diagnosis and avoid misdiagnosis.