Fatal Congenital Pulmonary Lymphangiectasis and Beckwith-Wiedemann Syndrome in a Newborn: A Case Report

Congenital pulmonary lymphangiectasis (CPL) is a rare developmental disorder characterized by the dilatation of the lymphatics of the lung. CPL can occur in a primary or secondary setting and has been reported in various genetic syndromes. Here, we describe a newborn with fatal CLP together with Beckwith-Wiedemann syndrome (BWS). The newborn presented with cyanosis soon after birth and died at the age of 3.5 hours due to severe hypoxemia leading to acidosis and cardiac dysfunction. Pathological examination revealed severe CLP as well as adrenal and pancreatic findings suggestive of BWS. The latter diagnosis was confirmed via methylation analysis, as the infant showed a sporadic maternal loss of methylation of IC2. To our knowledge, CPL has previously not been reported with BWS.