Cuisset J M, Maurage C A, Pellissier J F, Barois A, Urtizberea J A, Laing N, Tajsharghi H, Vallée L
Service de Neuropédiatrie, Centre hospitalier régional universitaire et faculté de médecine, 59037 Lille, France.
Neuromuscul Disord. 2006 Apr;16(4):277-81. doi: 10.1016/j.nmd.2006.01.014. Epub 2006 Mar 13.
We report the observation of an 18-year-old girl, whose clinical presentation was very suggestive of a congenital myopathy with neonatal onset. A congenital myopathy had been already diagnosed in her brother and in addition her half-cousin died diagnosed with a severe nemaline myopathy at age 4 years. A muscle biopsy performed on both siblings revealed histological and ultrastructural features of 'cap myopathy'. This case report suggests that 'cap myopathy' and some cases of nemaline myopathy with neonatal onset might be two phenotypic expressions of the same genetic disorder. These two entities could therefore, perhaps, be regarded as 'Z-line disorders' possibly caused by defective myofibrillogenesis.
我们报告了一名18岁女孩的观察病例，其临床表现强烈提示为新生儿期起病的先天性肌病。她的哥哥已被诊断患有先天性肌病，此外，她的半个表弟在4岁时被诊断为严重的杆状肌病并死亡。对这两名亲属进行的肌肉活检显示出“帽状肌病”的组织学和超微结构特征。本病例报告提示，“帽状肌病”和一些新生儿期起病的杆状肌病病例可能是同一遗传疾病的两种表型表现。因此，这两种疾病实体或许可被视为可能由肌原纤维生成缺陷导致的“Z线疾病”。
