Chylothorax, Congenital

Clinical Features

Fox et al. (1998) described congenital chylothorax in 2 sibs, a female and a male. In the case of the female infant, the bilateral hydrothorax, more on the left with mediastinal shift, was discovered at 24 weeks' gestation. Bilateral thoracocentesis led to reexpansion of both lungs. Reaccumulation of fluid required bilateral pleuroamniotic shunts. The infant was delivered prematurely at 27 weeks' gestation and died at 12 hours of age. No evidence of congenital pulmonary lymphangiectasis was found at autopsy. In the pregnancy with the male sib, as in the pregnancy with the female sib, polyhydramnios was the presenting feature in the mother, occurring at 33 weeks' gestation. Ultrasound examination, which had been normal at 18 and 26 weeks, showed large bilateral hydrothoraces. Therapeutic amniocentesis was performed and bilateral pleuro-amniotic shunts were inserted. As in the case of the female sib, the pleural fluid contained a high cell count, predominantly lymphocytes. The male was delivered by cesarean section at 34 weeks' gestation, because of face presentation. Enteral feeding was initiated on day 4 with a high content medium-chain triglyceride formula. This was discontinued on the eleventh day when he deteriorated owing to accumulation of chylous pleural fluid bilaterally. Total parenteral nutrition was continued until after the reintroduction of enteral feeding on day 68. The subsequent course was complicated by congenital pyloric stenosis, which required surgical pyloromyotomy at day 99. The infant was discharged home on day 113 of life (i.e., corrected age of 10 weeks). At that time chest radiograph showed small residual bilateral pleural effusions, although the infant remained asymptomatic.

Inheritance

Fox et al. (1998) found 6 reports of familial recurrence of congenital chylothorax and added a further example. Reports in male infants (Defoort and Thiery, 1978; Reece et al., 1987) led to the suggestion of X-linked inheritance; however, King et al. (1991) reported a familial recurrence in female sibs.

In a report of 7 perinatal autopsy cases of congenital pulmonary lymphangiectasis (265300) with bilateral chylothorax, Moerman et al. (1993) observed 1 familial case.