De Reuck J, Hooft C, De Coster W, van den Bossche H, Cuvelier C
Eur Neurol. 1977;15(4):217-56. doi: 10.1159/000114836.
An uncommon case of initial respiratory distress during the first months of life as the result of bilateral diaphragmatic weakness is presented. The biopsy and necropsy findings show a progressive congenital myopathy with type I muscle fiber atrophy and predominant involvement of the respiratory muscles. The lesions, observed in the central nervous system are due to the severe hypoxia. The morphological findings are discussed in relation to the etiology and the clinical picture of the disease.
本文报告了一例罕见病例，患儿在出生后的头几个月因双侧膈肌无力而出现初始呼吸窘迫。活检和尸检结果显示为一种进行性先天性肌病，伴有I型肌纤维萎缩，且呼吸肌受累为主。在中枢神经系统观察到的病变是由严重缺氧所致。结合该疾病的病因和临床表现对形态学发现进行了讨论。
