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- W2014532080 abstract "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 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 2 and 6 years, respectively, phrenic nerve stimulators were implanted. Both girls remain independant of nocturnal, mechanical ventilation two and three years after 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 prolongation of life of an acceptable quality." @default.
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- W2014532080 title "Ondine's curse with Hirschsprung's disease" @default.
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- W2014532080 doi "https://doi.org/10.3109/02688699008992705" @default.
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