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Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
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A Case of Peutz-Jeghers Syndrome Complicated With Hirschsprung Disease

Saori Murakawa1, Masato Ogawa1, Aoi Taku2

  • 1Department of Pediatrics, University of Occupational and Environmental Health, Fukuoka, JPN.

Cureus
|November 24, 2025
PubMed

Insights

This case study details the first documented instance of Peutz-Jeghers syndrome (PJS) co-occurring with Hirschsprung disease (HD). Delayed Hirschsprung disease diagnosis highlights the need to consider multiple hereditary conditions in patients with complex gastrointestinal issues.

Area of Science:

  • Gastroenterology
  • Pediatric Surgery
  • Medical Genetics

Background:

  • Peutz-Jeghers syndrome (PJS) is a rare genetic disorder characterized by hamartomatous polyps and increased cancer risk.
  • Hirschsprung disease (HD) is a congenital condition affecting the large intestine, causing severe constipation.
  • Co-occurrence of PJS and HD is exceptionally rare, posing diagnostic challenges.

Keywords:
chronic constipationgastrointestinal diseasegenetic disorderhirschsprung diseasepeutz-jeghers syndrome

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