Clinical study of a patient with congenital myotonic dystrophy reveals chylothorax as neonatal presentation of the disease

Abstract

Congenital myotonic dystrophy type 1 presents with severe generalized weakness, hypotonia and respiratory involvement after birth with high mortality and poor outcome among survivors. We report on a patient that prenatally showed polyhydramnios and arthrogypotic attitude. Postnatal examination was compatible with the diagnosis of congenital myopathy. A rare finding associated with the patient was chylothorax. Genetic testing confirmed the diagnosis of myotonic dystrophy. Few prenatal and neonatal cases of congenital myotonic dystrophy associated with chylothorax have been reported in the literature. We reviewed all cases reported to date showing congenital myopathic weakness in association with chylothorax to delineate the clinical manifestations that allow an early diagnosis and management of this syndrome. Possible mechanisms to explain the association between myopathy and chylothorax are also discussed.