Neonatal Hirschsprung disease, dysautonomia, and central hypoventilation.

Abstract

A reported association between congenital central hypoventilation, long-segment intestinal aganglionosis (Hirschsprung disease), and autonomic dysfunction, with a high recurrence risk and mortality rate, is associated with abnormal neural crest development (neurocristopathy). A fetus had increasing polyhydramnios, no stomach bubble, and repeatedly nonreactive fetal heart rate tracings despite normal activity. There were no other fetal anomalies on ultrasound. Postnatally all of the above clinical features were diagnosed, prompting diagnosis of neurocristopathy syndrome. She died at 2 weeks of age. Antenatal polyhydramnios, nonreactive nonstress tests, and absent stomach bubble in an active fetus indicated neurocristopathy.