【摘要】 目的探讨强直性肌营养不良1型(myotonic dystrophy type 1,DM1)脑白质病变的临床特点和影像学表现,并结合肌肉活检和基因检测,加深对该疾病的认识,避免漏诊及误诊。方法结合肌肉活检和基因检测的结果,分析1例伴脑白质病变的强直性肌营养不良1型患者的临床特点及影像学表现。结果患者因"双下肢无力,行走不稳4 a"入院,秃顶,面容呈"斧状脸",双眼白内障术后,头颅MRI显示双侧颞叶和脑室旁成高信号,肌电图可见肌强直电位,肌肉活检呈肌营养不良样病理改变,最终经基因检测确诊为DM1。结论强直性肌营养不良是一组以肌无力、肌强直和肌萎缩为特点的多系统受累的罕见病,通过患者的症状和体征表现,并结合影像学,肌肉活检和基因检测进行诊断。更多还原

【Abstract】 Objective To explore the clinical and imaging manifestations of white matter lesions of myotonic dystrophy type 1,combined with muscle biopsy and gene detection,to deepen the understanding of the disease and avoid missed diagnosis and misdiagnosis.Methods The clinical features and imaging findings of a case of myotonic dystrophy type 1 with white matter lesions were analyzed,combined with muscle biopsy and gene detection.Results The patient was admitted to hospital because of "weakness of both lower limbs and unstable walking for 4 years." The patient was bald and had an axe-shaped face.After cataract surgery,MRI showed high signal in bilateral temporal lobe and paraventricular ventricle,myotonic potential in electromyography and muscular dystrophy-like pathological changes in muscle biopsy.Finally,it was diagnosed as DM1 by gene detection.Conclusion Myotonic dystrophy is a group of rare diseases characterized by muscle weakness,myotonia and muscle atrophy,which are diagnosed by symptoms and signs,imaging,muscle biopsy and gene detection.更多还原