title: [A case of X-linked myotubular myopathy with chylothorax].
abstract: We report a case of X-linked myotubular myopathy with chylothorax. A male infant weighing 2,114 g was born to a mother whose pregnancy was complicated with polyhydramnios from gestational week 32. At gestational week 37, emergent caesarian section was performed due to membrane rupture followed by fetal bradycardia. Ventilatory support was necessary because the neonate showed severe birth asphyxia accompanied by hypotonia and dyspnea. He also showed a respiratory complication of chylothorax at 10 days old; therefore, thoracic drainage was performed. Congenital chylothorax associated with congenital myotonic dystrophy (CMD) has been described in a number of past reports. Specific findings of congenital myotubular myopathy and partial CMD, such as peripheral halo of muscle fibers, were demonstrated in biopsied muscle, and mutation of the myotubularin (MTM1) gene was identified. Tracheostomy was performed at 5 months old because of prolonged ventilatory support and severe dysphagia. The infant was able to be discharged at 17 months old. Congenital chylothorax might be associated with congenital myotubular myopathies such as CMD.
authors.forename: Taku
authors.initials: T
authors.lastname: Oishi
authors.forename: Tetsuya
authors.initials: T
authors.lastname: Sato
authors.forename: Kenshi
authors.initials: K
authors.lastname: Matsushita
authors.forename: Tomoki
authors.initials: T
authors.lastname: Takechi
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Murakami
authors.forename: Mikiya
authors.initials: M
authors.lastname: Fujieda
mesh_terms: D002916:Chylothorax / Q000150:complications / Q000151:congenital*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020914:Myopathies, Structural, Congenital / Q000150:complications* / Q000473:pathology; D009243:NAD / Q000032:analysis
chemical_list: D009243:NAD