HIRSCHSPRUNGS-DISEASE ASSOCIATED WITH ONDINES CURSE - REPORT OF 3 CASES AND REVIEW OF THE LITERATURE

The cases of three full-term infant girls with both Hirschsprung's disease (HD) and Ondine's curse (OC) are presented, and the relevant literature is reviewed. All three patients required endotracheal intubation and assisted ventilation during the first 24 hours of life because of respiratory distress. The diagnosis of HD was subsequently established at age 13, 16, and 20 days, respectively. The aganglionic segment was confined to the rectum in one case, extended to the splenic flexure of the colon in the second case, and involved the terminal ileum in the third. The definitive treatment (endorectal pull-through) was completed successfully in all three patients, and the postoperative follow-up period was 3 to 34 months. All of them presently have tracheostomies and are maintained on home ventilation. They tolerate being off the ventilator while awake, and have nearly normal bowel habits and growth curves. Two have bilateral ciliary ganglion dysfunction, and one has strabismus. Based on this review, the authors conclude the following. (1) The incidence of the HD associated with OC may be more common than is generally believed (1.8% of all their HD patients have OC). (2) OC should be suspected in any newborn with HD who requires assisted ventilation in the absence of major cardiopulmonary abnormalities. Likewise, HD should be ruled out in any OC case with gastrointestinal dysfunction. (3) Contrary to the previous impression from the literature, the combination of OC and HD should not be considered fatal, because most such patients can be managed successfully and have a reasonable quality of life. (4) The significant association of HD, OC, and ocular anomalies in all three of the authors' patients further substantiates the syndromic nature of this association, which should alert the clinician to perform regular screening for other possible neurocristopathies such as neuroblastoma. © 1994.