Reed U C, Tsanaclis A M, Ferreira L M, Carvalho M S, Diament A, Levy J A
Departamento de Neurologia, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo.
Rev Hosp Clin Fac Med Sao Paulo. 1992 Sep-Oct;47(5):237-9.
The authors report the case of a female 5-months-old child who presented from the age of two months delayed neuromotor development, marked hypotonia, general muscle weakness and bilateral palpebral ptosis. The muscle biopsy revealed many fibers with central nuclei and the diagnosis was centronuclear (myotubular) myopathy. The difficult histological characterization of this congenital myopathy and the great variability of clinical findings with light, moderate or severe involvement are analysed and discussed.
作者报告了一例5个月大的女童病例，该女童自两个月大时起出现神经运动发育迟缓、明显的肌张力减退、全身肌肉无力和双侧眼睑下垂。肌肉活检显示许多纤维有中央核，诊断为中央核（肌管）肌病。分析并讨论了这种先天性肌病在组织学特征上的难点以及临床症状在轻度、中度或重度受累情况下的巨大变异性。
