Perinatal diagnosis of myotubular (centronuclear) myopathy: a case report

This is a case report of a male infant who was hypotonic at birth, failed to maintain his respiratory effort, and despite ventilation died at 27 days of age. Infrequent fetal movements were noted and the possibility of a neuromuscular disorder was suggested antenatally. Electromyography in the neonatal period was indicative of a neurogenic disorder, but muscle biopsy at 16 days of age showed the characteristic histologic appearance of myotubular (centronuclear) myopathy. There was no family history of muscle disease, and the mother has subsequently given birth to a normal male child. The relationship of the present case to other reports of severe congenital myotubular myopathy is discussed.