THE COMPLETE SPECTRUM OF NEUROCRISTOPATHY IN AN INFANT WITH CONGENITAL HYPOVENTILATION, HIRSCHSPRUNGS-DISEASE, AND NEUROBLASTOMA

Neuroblastoma, Hirschsprung's disease, and central hypoventilation (On dine's curse) are considered aberrations of neural crest cell growth, migration, or differentiation, and as such are considered to be under the general heading of neurocristopathy. Their combined occurrence in a newborn infant presenting with total colonic aganglionosis, central hypoventilation, and multifocal neuroblastoma had not been reported pr eviously. A 2.3-kg white full-term girl required endotracheal intubati on because of persistent apnea in the first hours of life. She had pro gressive abdominal distension and failure to pass meconium; a barium e nema was performed, which showed microcolon with meconium pellets at t he distal ileum. During laparotomy the distal ileum was found to be ob structed with inspissated meconium; an ileostomy and appendectomy were performed. The resected specimens were aganglionic. An additional 20 cm of aganglionic ileum was removed, and a normally innervated ileosto my was constructed. Numerous attempts at extubation failed because of apnea. The results of an extensive apnea workup, including electroence phalogram, magnetic resonance imaging (MRI), bronchoscopy, and pH prob e study, were normal. Sleep studies showed congenital central hypovent ilation syndrome, and the patient underwent a tracheostomy. At 3 month s, an abdominal ultrasound examination performed within a septic worku p showed a right suprarenal mass extending across the midline. Thoraci c and abdominal MRI scans showed large bilateral adrenal and posterior mediastinal masses. The serum catecholamines and ferritin level were markedly elevated, suggestive of neuroblastoma. In light of the child' s multiple problems, the family chose to forgo further workup (includi ng a tissue biopsy) and therapy. In the following 2 months her tumor l oad rapidly progressed, and she died of respiratory insufficiency. An autopsy was refused. This is the first report of the coexistence of to tal colonic aganglionosis, multifocal neuroblastoma, and central hypov entilation syndrome. Copyright (C) 1995 by W.B. Saunders Company