Sleep apnea with intestinal aganglionosis: report of three cases; therapeutic considerations

Hirschsprung's disease can be associated with other congenital abnormalities, some of which are neural in origin. A rare association is with congenital failure of automatic control of respiration-central hypoventilation syndrome, sleep apnoea or Ondine's curse. Patients with this combination tend to have a short life expectancy. Diaphragmatic pacing by electrophrenic stimulation has proven useful in the management of patients with central hypoventilation. Three children, two females and one male, with this combination are described. The male child, who had total intestinal aganglionosis, died at the age of one month despite an ileostomy and nocturnal mechanical ventilation. The two females had aganglionosis more typical of Hirschsprung's disease, one requiring colostomy. At the ages of two and six years, respectively, phrenic nerve stimulators were implanted. Both girls remained independent of nocturnal mechanical ventilation two and three years after the commencement of diaphragm pacing. In patients with Ondine's curse and Hirschsprung's disease, in whom the aganglionosis can be effectively managed, diaphragm pacing may lead to independence from mechanical ventilation and prolonged life with an acceptable quality

Traumatic perforation of the esophagus in a neonate

The case of a one day old premature baby is reported, where the oesophagus was perforated iatrogenically while attempting to pass a rigid nasogastric tube. The presentation mimicked oesophageal atresia and led to the erroneous diagnosis of perforation of the upper pouch of an oesophageal atresia. The pitfalls in diagnosis are discussed with analysis of the literature