Delayed diagnosis of Hirschsprung disease presenting initially as anemia: A case report

Abstract

Introduction: Hirschsprung disease (HD) is a common congenital gastrointestinal malformation in pediatric patients, with an incidence of 1 per 5000 newborn. Most cases are diagnosed in neonatal period when the patient has intestinal obstruction. Delayed diagnosis of HD beyond infancy is reported in a minority of cases, and is particularly common in developing countries. Most such cases suffer from constipation and chronic distension. Case presentation: We report a case of a 7 year old boy who presented very atypically, with anemia as the presenting sign of HD. Work up revealed iron deficiency anemia. He received iron supplements which lead to elevation of hemoglobin level transiently. Definite correction was achieved after pull through procedure. Conclusion: Anemia can be a presenting sign for HD. Although it is a very rare presentation, when combined with chronic constipation, the possibility of HD should be considered and investigated.

Keywords

• Case report
• Hirschsprung disease
• Anemia
• Delayed diagnosis