【摘要】 目的:报道1例罕见的X连锁肌病伴过度自噬（X-linked myopathy with excessive autophagy,XMEA）的电镜超微病理观察。方法:分析患者的临床资料并对股四头肌进行病理活检电镜超微结构检测。结果:本例患者男性,5岁,因肌无力入院,智力正常,自行从蹲位转换为站位困难,下肢可见萎缩,肌力下降,血清肌酸激酶（CK）值明显升高,>3 000 U·L^-1,心电图正常,心脏传导无异常。股四头肌活检电镜超微结构观察到肌节中和肌膜下有大量聚集自噬体,内含大小不一致密颗粒和糖原颗粒等无定型物质。XMEA临床表现容易误诊为duchenne型肌营养不良和Becker型肌营养不良、包涵体肌病、重度肌无力综合症等肌病,电镜超微结构分析和DNA检测,可避免误诊。更多还原

【Abstract】 Objective: To report the ultrastructural pathological change of a rare X-linked myopathy with excessive autophagy（XMEA） under electron microscope. Methods: The clinical datas of the patient were analyzed and the ultrastructural change of the quadriceps femoris was examined by electron microscope. Results: In this case, a 5-year-old male patient was admitted to hospital due to myasthenia, with normal intelligence and difficulty in converting from squat position to standing position on his own, atrophy of lower limbs was observed, muscle strength was decreased, serum creatine kinase（CK） value was significantly increased(>3 000 U·L^-1), electrocardiogram was normal, and cardiac conduction was normal. A large number of autophagosomes were observed in the sarcomere and under the muscle membrane under the electron microscope of the muscle of quadriceps femoris. The clinical manifestations of XMEA are easily misdiagnosed as muscular dystrophy of duchenne type and Becker type, inclusion body myopathy, severe muscular weakness syndrome and other myopathy.更多还原