Congenital central hypoventilation syndrome and Hirschsprung disease: A retrospective review of the French National Registry Center on 33 cases

Abstract Aim of the study Congenital Central Hypoventilation Syndrome (CCHS) is a rare affection associated to Hirschsprung disease (HD) in 20% of the cases. Using the French CCHS registry, we described the population of patients suffering from both CCHS and HD reporting the outcome on these patients. Methods Medical records were reviewed. Epidemiological, clinical, histological and genetic data were analyzed and extracted from the national French registry data. Results 33 patients had CCHS and HD. Thirty percent had a severe form of CCHS (Death owing to CCHS or 24/24 ventilation beyond 1 year old). Fifty four percent required tracheotomy. HD's pathologic segment was classic (Rectosigmoid and left colic form) in 20% and long (Above the splenic flexure) in 80%. Twenty four percent were treated with daily irrigation, 21% had colostomy without undergoing pullthrough, and 55% underwent optimal treatment (pull through). We failed to demonstrate a correlation between severity of CCHS and HD's length. The rate of mortality was 57% and was higher in the long HD group (p = 0.0005). Fourteen patients were still alive, aged 1 to 31 years old. Ninety two percent were weaned off the 24/24 ventilation. Regarding the intestinal function, 38% presented with soiling and 30% with chronic diarrhea. Hundred percent had CCHS follow-up while only 35% had no surgical follow-up in regard to the HD. Conclusions This is the largest study regarding the CCHS / HD association and its long-term followup. Mortality is high demonstrating that a multidisciplinary follow-up on respiratory and intestinal function is necessary to improve outcome. Level III study.