伴有脑部损害的强直性肌营养不良10例临床分析

Clinical analysis of myotonic dystrophy with brain damage in 10 patients

目的分析伴有脑部损害的强直性肌营养不良(DM)的临床特点,以提高对DM疾病的认识及诊断水平。方法收集至我院就诊的伴有脑损害的临床诊断为DM的患者,对患者的临床资料进行分析。结果10例患者均为慢性起病,以双手无力、活动不灵活起病多见,其中6例有家族史,部分病例伴有白天嗜睡,智能下降、肺部感染、呼吸衰竭、心脏、眼部、内分泌等其他多系统损害。10例均行肌电图检查提示肌源性损害,均发现有肌强直电位。10例均行头部磁共振(MRI)检查,8例可见额顶颞叶白质不同程度的脱髓鞘,2例出现脑室扩大、脑积水,1例可见前床突状脑膜瘤、脑部多发软化灶。2例行肌活检,主要表现为部分肌纤维萎缩,变性、坏死肌纤维,核内移及肌浆块形成。3例患者行肌肉MRI,显示肌肉弥漫性异常信号;1例行肺部CT示肺部感染,2例行强直性肌营养不良蛋白激酶(DMPK)基因CTG重复序列分析示拷贝数超过正常范围。结论DM是一种累及多系统的遗传性疾病,除常见累及肌肉、心脏、内分泌、眼部系统外,还常累及脑部白质、脑室脑膜、呼吸系统,对诊断DM的患者应进行头部和呼吸系统方面的检查;此外,肌肉MRI对DM的诊断有一定帮助。

Objective The clinical features of myotonic dystrophy(DM)with brain damage were analyzed to improve the understanding and diagnosis of DM diseases.Methods The clinical data of DM patients with brain damage were collected and analyzed.Results All the 10 patients suffered from chronic onset,mostly due to weakness of hands and inactivity.6 of them had family history,and some of them were accompanied by daytime sleepiness,mental decline,pulmonary infection,respiratory failure,heart,eye,endocrine and other multiple system damage.All the 10 cases were examined by cranial magnetic resonance images(MRI),8 of which showed demyelination in the white matter of frontal,temporal and parietal lobe,2 of which showed ventricular enlargement and hydrocephalus,1 of which had anterior protruding meningioma and multiple brain softening lesions.Muscle biopsies were performed in 2 patients,mainly showing partial muscle fiber atrophy,degeneration and necrosis muscle fiber,nuclear migration and muscle mass formation.Muscle MRI was performed in 3 patients,showing diffuse abnormal signals.Pulmonary CT in 1 patient showed pulmonary infection,and CTG repeated sequence analysis of the dystrophic muscle dystrophic protein kinase(DMPK)gene in 2 patients showed that the copy number was beyond the normal range.Conclusion DM is an genetic disease involving multiple systems.In addition to the common damage to the muscle,heart,endocrine and eye systems,it also involves the white matter of the brain,the ventricle of the brain,the respiratory system,Patients diagnosed with DM should be examined for their cerebral and respiratory system.Besides that,muscle MRI is helpful for the diagnosis of DM.