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A case of pneumatosis cystoides intestinalis mimicking familial adenomatous polyposis

Maurizio Ponz de Leon1, Claudia Bertarelli, Gian Piero Casadei

  • 1Dipartimento di Medicina Interna, Università di Modena e Reggio Emilia, Modena, Italy, deleon@unimore.it.

Familial Cancer
|December 1, 2012
PubMed

Insights

Pneumatosis cystoides intestinalis, a rare condition involving gas in the intestinal wall, can mimic Familial Adenomatous Polyposis (FAP) symptoms. This case highlights how acarbose use may contribute to this misdiagnosis.

Area of Science:

  • Gastroenterology
  • Pathology

Background:

  • Familial Adenomatous Polyposis (FAP) is an inherited condition characterized by numerous polyps in the colon.
  • Accurate diagnosis is crucial for management and preventing colorectal cancer.

Observation:

  • A 54-year-old man presented with features suggestive of FAP, leading to surgical intervention.
  • Post-operative examination revealed "Pneumatosis Cystoides Intestinalis" (PCI), a condition with gas-filled cysts in the intestinal wall.

Findings:

  • The patient's PCI was associated with long-term acarbose use.
  • Fermentation of unabsorbed carbohydrates from acarbose may lead to gas penetration into the bowel wall.
  • This process can create cystic formations mimicking polypoid lesions endoscopically.

Implications:

  • Pneumatosis Cystoides Intestinalis can present with endoscopic findings that are easily mistaken for Familial Adenomatous Polyposis.
  • Clinicians should consider acarbose use and the possibility of PCI in cases with atypical FAP presentations.
  • This case underscores the importance of thorough differential diagnosis in gastroenterology.

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