Noonan syndrome presented with cystic hygroma and chylothorax: case report.

Abstract

A cystic hygroma was found in a full-term (39 week-old) male newborn delivered by cesarian section. Polyhydramnios was diagnosed by sonography at 21 weeks of gestation. Clinical manifestations at birth, such as respiratory distress, tachypnea and chylothorax were successfully relieved by the insertion of chest tube and medical therapy. Other conditions, which included mild hydronephrosis of left kidney, thickening of aortic and pulmonary valves with mild mitral and tricuspid valves regurgitation, subsided within six months. The cystic hygroma regressed to a webbed neck. In general, the features and clinical manifestations of the present case resembled the criteria of Noonan syndrome including various congenital heart defects; webbed neck; chest deformity; a characteristic facial appearance comprising of a broad forehead, ocular hypertelorism, antimongoloid slant of palpebral fissures, low set ears; and bilateral undescended testis etc., suggested by Noonan and other subsequent authors. The outcome of this infant was satisfactory following medical and surgical therapy (chest tube, orchiopexy) and a special dietary regimen.