Management of Hirschsprung's disease in children with trisomy 21

Area of Science:

• Pediatric Surgery
• Gastroenterology
• Genetics

Background:

• Hirschsprung's disease is a congenital disorder affecting the large intestine.
• Trisomy 21 (Down syndrome) is associated with an increased incidence of gastrointestinal anomalies.
• Management of Hirschsprung's disease in children with trisomy 21 presents unique challenges.

Purpose of the Study:

• To review the surgical outcomes of Hirschsprung's disease in patients with trisomy 21.
• To evaluate the incidence of postoperative complications, particularly enterocolitis.
• To assess the long-term functional outcomes and mortality in this patient cohort.

Main Methods:

• Retrospective case series analysis of 13 infants and children with trisomy 21 treated for Hirschsprung's disease since 1975.
• Review of clinical presentations, surgical procedures (Duhamel, Soave, anal myectomy), and associated congenital anomalies.
• Analysis of postoperative complications, continence, and mortality rates.

Main Results:

• Common presentations included constipation, neonatal intestinal obstruction, and enterocolitis.
• Seven patients (54%) developed enterocolitis postoperatively.
• Five patients (38%) died, primarily due to enterocolitis and cardiorespiratory failure.
• Satisfactory continence was achieved in all but one patient undergoing definitive surgery.

Conclusions:

• Definitive surgical repair for Hirschsprung's disease is feasible in children with trisomy 21.
• Patients with trisomy 21 are at high risk for developing enterocolitis and require vigilant postoperative care.
• Associated complex cardiac disease significantly impacts morbidity and mortality in this population.