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A case report of Peutz-Jeghers syndrome in a child with Crohn's disease

Hasala Rannulu1, Eve May1,2, Bethany Cunningham1,2

  • 1Penn State College of Medicine Hershey Pennsylvania USA.

JPGN Reports
|July 25, 2026
PubMed

Insights

This case report details an 11-year-old male with both Peutz-Jeghers syndrome (PJS) and Crohn

Area of Science:

  • Gastroenterology
  • Genetics
  • Pediatrics

Background:

  • Peutz-Jeghers syndrome (PJS) is a rare genetic disorder featuring hamartomatous polyps and mucocutaneous hyperpigmentation.
  • Crohn's disease (CD) is a chronic inflammatory condition affecting the gastrointestinal tract.
  • The co-occurrence of PJS and CD is exceptionally rare, with limited data available on dual diagnosis management.

Purpose of the Study:

  • To report a rare case of an 11-year-old male diagnosed with both Peutz-Jeghers syndrome and Crohn's disease.
  • To highlight the diagnostic and management challenges associated with this rare dual diagnosis.
  • To underscore the need for further research into cancer screening and management strategies for patients with both PJS and CD.

Main Methods:

  • Case report presentation of a pediatric patient with concurrent PJS and CD.
  • Review of existing literature on the co-occurrence of PJS and CD.
  • Discussion of clinical presentation, diagnostic findings, and initial management.

Main Results:

  • An 11-year-old male presented with symptoms necessitating evaluation for both PJS and CD.
  • This represents the fifth reported case of a patient with both PJS and CD.
  • Both PJS and CD independently increase cancer risk, necessitating careful surveillance.

Conclusions:

  • The simultaneous presence of PJS and CD is exceedingly rare, posing unique clinical challenges.
  • Current literature lacks specific guidelines for managing patients with this dual diagnosis.
  • Further investigation is crucial to establish appropriate cancer screening protocols and therapeutic approaches for individuals with both PJS and CD.

Keywords:
cancer surveillance in hereditary gastrointestinal syndromeshamartomatous gastrointestinal polyposispediatric inflammatory bowel disease overlap

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