Hirschsprung’s disease in adulthood: a case report

Authors

  • Clara Leal Department of General Surgery, Unidade Local de Saúde de Trás-os-Montes e Alto Douro, Vila Real, Portugal
  • Urânia Fernandes Department of General Surgery, Unidade Local de Saúde de Trás-os-Montes e Alto Douro, Vila Real, Portugal
  • Rita Marques Department of General Surgery, Unidade Local de Saúde de Trás-os-Montes e Alto Douro, Vila Real, Portugal
  • João Pinto-de-Sousa Department of General Surgery, Unidade Local de Saúde de Trás-os-Montes e Alto Douro, Vila Real, Portugal

DOI:

https://doi.org/10.18203/2349-2902.isj20241143

Keywords:

Hirschprung’s disease, Congenital anomalies, Gastrointestinal surgery, General surgery, Chronic constipation, Adult

Abstract

Hirschsprung’s disease (HD) is caused by a gut development anomaly that leads to functional constipation. In most cases, HD is diagnosed and treated during childhood. Abdominal pain, distension and chronic constipation are typical symptoms of adult presentation. An adult HD case is presented, using analysis of electronic medical records and literature review for diagnostic and management insights. A man in his early 40s, with a history of chronic constipation since infancy, presented to the emergency department with an intestinal obstruction. Imaging tests revealed pronounced colonic dilation along with faecal loading. Following favourable progress, the patient was referred for outpatient investigation. Endoscopy revealed rectal scars with biopsy consistent with HD. A laparoscopic Duhamel-Martin procedure was performed in two stages. The postoperative period was uneventful. Adult HD is overlooked and misdiagnosed. Therefore, a high level of suspicion is needed to diagnose and avoid urgent surgeries, often with the need of colostomy and its particularities. When feasible, appropriate management by elective surgery should be the gold standard.

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Published

2024-04-29

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Case Reports