Hirschsprung disease in the older child: diagnostic strategies

Clin Pediatr (Phila). 2012 Nov;51(11):1087-90. doi: 10.1177/0009922812458354. Epub 2012 Aug 30.

Abstract

Background: Hirschsprung disease is usually diagnosed in patients who are younger than 1 year; but in some individuals it is found later in childhood.

Objective: This retrospective study is focused on clinical signs and symptoms of Hirschsprung disease in older children.

Materials and methods: Patients with Hirschsprung disease were included in the study if they were older than 14 months at the time of diagnosis.

Results: Ten patients older than 14 months were diagnosed with Hirschsprung disease; 7 were males and 3 females. In all, 60% had a positive history of recurrent gastrointestinal infection with vomiting and hospitalization. In 6 patients, the final diagnosis was delayed because of unspecific findings in contrast enema. Rectal biopsy confirmed the diagnosis in all patients.

Conclusion: Contrast enema is not a specific method for diagnosing Hirschsprung disease. Rectal biopsy alone confirms the diagnosis and provides a clear indication for surgery.

MeSH terms

  • Adolescent
  • Biopsy
  • Child
  • Child, Preschool
  • Constipation / etiology
  • Diagnosis, Differential
  • Enema
  • Female
  • Hirschsprung Disease / complications
  • Hirschsprung Disease / diagnosis*
  • Hirschsprung Disease / pathology
  • Humans
  • Infant
  • Male
  • Physical Examination
  • Rectum / pathology*
  • Retrospective Studies
  • Vomiting / etiology