Hirschsprung's disease in cartilage-hair hypoplasia has poor prognosis

J Pediatr Surg. 2002 Nov;37(11):1585-8. doi: 10.1053/jpsu.2002.36189.

Abstract

Purpose: Cartilage-hair hypoplasia (CHH) is a chondrodysplasia with growth failure, impaired immunity, and high incidence of Hirschsprung disease (HD). This study describes the outcome of CHH patients with HD.

Methods: Among 147 patients with CHH, 13 were identified to have HD. Their medical records were analyzed for treatment, outcome, and complications of HD and compared with a control group of 169 patients with HD but not CHH.

Results: Eight CHH patients had classic HD with rectosigmoid involvement, 2 had long segment colonic disease, and 3 patients had total colonic aganglionosis. Six of the 13 CHH patients (46%) had episodes of enterocolitis before the first surgery. Enterocolitis was complicated by colonic perforation in 2 cases. Eleven CHH patients (85%) had at least one episode of postoperative enterocolitis. Five patients (38%) with CHH and HD had died; 4 of enterocolitis-related septic infection and one of non-Hodgkin's lymphoma. In the control group, preoperative enterocolitis occurred in 14% and postoperative enterocolitis in 8%. Two controls (1.2%) had died.

Conclusions: HD associated with CHH has poor prognosis in terms of postoperative morbidity and risk of death. These patients require particular attention during postoperative follow-up to detect potentially lethal complications.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cartilage / abnormalities
  • Case-Control Studies
  • Comorbidity
  • Female
  • Finland / epidemiology
  • Hair / abnormalities
  • Hirschsprung Disease / epidemiology*
  • Hirschsprung Disease / surgery
  • Humans
  • Incidence
  • Infant
  • Infant, Newborn
  • Male
  • Osteochondrodysplasias / epidemiology*
  • Postoperative Complications / epidemiology
  • Prognosis
  • Recurrence
  • Retrospective Studies
  • Syndrome