Hyperlucent lung secondary to homocystinuria

At 23 months of age, one of a pair of monozygotic twins with radiographic unilateral hyperlucent lung was evaluated by radionuclide ventilation/perfusion pulmonary studies, which revealed a ventilation/perfusion mismatch of an entire lung. This twin died, and autopsy revealed pulmonary arterial thrombosis and histological changes compatible with homocystinuria, which was subsequently shown to be present in the surviving twin as well. A ventilation/perfusion lung scan of the surviving twin revealed multiple ventilation/perfusion mismatched defects, suggestive of pulmonary embolism. The presenting manifestation of homocystinuria in these patients was the pulmonary thrombotic disease. Neither twin had any other stigmata of homocystinuria at the time of initial presentation.