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

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.

• Authors: Outi Mäkitie, Marja Heikkinen, Ilkka Kaitila, Risto Rintala
• Journal: Journal of pediatric surgery (J Pediatr Surg) Vol. 37 Issue 11 Pg. 1585-8 (Nov 2002) ISSN: 1531-5037 [Electronic] United States
• PMID: 12407544 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright 2002, Elsevier Science (USA). All rights reserved.

Topics

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