Neonatal chylothorax with trisomy 21

Abstract

Neonatal chylothorax is an uncommon cause of respiratory distress in the newborn. It may result from anomalous lymph drainage with or without association with aneuploidy syndromes (trisomy, Turner's syndrome, Noonan's syndrome), from injury to the thoracic duct, and from obstruction of the superior vena cava. We report a term newborn and a premature infant with neonatal chylothorax, both associated with trisomy 21. In the case of the term infant, bilateral pleural effusions were diagnosed immediately before birth. The baby suffered from respiratory distress. The physical findings were characteristic of trisomy 21. In the premature infant (gestational age 24 weeks, 735 g) the ductus arteriosus was ligated on day nine after birth. Four days after surgery a central venous line was inserted via the left vena mediana cubiti into the left vena subclavia. Nine days after surgery a left-sided chylothorax occurred. The infant had subtle signs of a trisomy 21 (slightly enlarged tongue, brachycephalic head. questionable simian crease). In both children, cytogenetic studies were done and confirmed the diagnosis of trisomy 21. Infants with neonatal chylothorax should be carefully evaluated for dysmorphic signs of a trisomy or monosomy. Premature infants may present with only subtle clinical signs requiring cytogenetic studies to confirm an aneuploidy syndrome.