Congenital pulmonary alveolar proteinosis: failure of treatment with extracorporeal life support

Pulmonary alveolar proteinosis, a rare disease in neonates, is characterized by the accumulation of insoluble amorphous material within the alveoli. We describe two pairs of siblings with pulmonary alveolar proteinosis in two otherwise unaffected families. All four patients were term neonates in whom severe pulmonary failure developed within hours after birth; three had mature lung profiles. Radiographic lung markings were characterized by an early granular pattern followed by lung opacification. All patients were treated with extracorporeal life support for periods of 212 to 381 hours, but none survived. Life spans ranged from 16 to 190 days. We speculate that pulmonary alveolar proteinosis in neonates results from a genetic defect in surfactant processing that may not be amenable to conventional or unconventional therapies, including extracorporeal life support.