Shevell M, Rosenblatt B, Silver K, Carpenter S, Karpati G
Department of Neurology, Montreal Children's Hospital, PQ, Canada.
Neurology. 1990 Jul;40(7):1111-4. doi: 10.1212/wnl.40.7.1111.
We present 3 patients with congenital inflammatory myopathy and summarize the literature. CNS involvement (microcephaly/intellectual delay) may or may not be present. Serum creatine kinase activity is elevated, the EMG is myopathic, and the muscle biopsy reveals inflammatory infiltrates, muscle fiber damage, and class I major histocompatibility complex products in muscle sarcolemma. Possible etiologies include intrauterine viral infection or an autoimmune process. Treatment with steroids may result in some motor improvement but has no effect on the CNS involvement. Despite a common time of presentation, these patients have a heterogeneous clinical profile, often suggesting a congenital muscular dystrophy syndrome.
我们报告了3例先天性炎症性肌病患者，并对相关文献进行了总结。中枢神经系统受累（小头畸形/智力发育迟缓）可能存在，也可能不存在。血清肌酸激酶活性升高，肌电图呈肌病表现，肌肉活检显示有炎性浸润、肌纤维损伤以及肌膜上的I类主要组织相容性复合体产物。可能的病因包括宫内病毒感染或自身免疫过程。使用类固醇治疗可能会使运动功能有所改善，但对中枢神经系统受累无效。尽管这些患者发病时间通常相同，但其临床特征各异，常提示为先天性肌营养不良综合征。
