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A case of pneumatosis cystoides intestinalis mimicking familial adenomatous polyposis

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Abstract

In rare cases the diagnosis of Familial Adenomatous Polyposis (FAP) may not be simple or straightforward. We describe the case of a 54-year man in whom endoscopic and histological features of FAP led to proctocolectomy with ileoanal anastomosis. At anatomical examination, air-filled cystic formations in the submucosa and subserosa of the entire large bowel led to the diagnosis of “Pneumatosis Cystoides Intestinalis”, a rare clinical condition featured by the infiltration (or the production) of gas within the intestinal wall. In this case the disease was associated with a long-lasting ingestion of acarbose; as suggested by previous reports, it is possible that gas produced by the fermentation of this unabsorbable carbohydrate penetrates the bowel wall giving origin to cystic formation and to the endoscopic appearance of several polypoid lesions in the large bowel. This report indicates that in rare occasions Pneumatosis Intestinalis can lead to a wrong diagnosis of FAP.

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Conflicts of interest

No conflict of interest involves the Authors of the present investigation.

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Authors and Affiliations

  1. Dipartimento di Medicina Interna, Università di Modena e Reggio Emilia, Modena, Italy

    Maurizio Ponz de Leon & Monica Pedroni

  2. Anatomia Patologica, Ospedale Maggiore, Bologna, Italy

    Claudia Bertarelli & Gian Piero Casadei

  3. Endoscopia Digestiva e Anatomia Patologica, Casa di Cura Villa Erbosa, Bologna, Italy

    Andrea Grilli & Patrizia Bacchini

  4. Dipartimento Chirurgico, Chirurgia A, Ospedale Maggiore, Bologna, Italy

    Elio Jovine

  5. Dipartimento di Medicina Diagnostica, Clinica e di Sanità Pubblica, Policlinico, Via del Pozzo n.71, 41100, Modena, Italy

    Maurizio Ponz de Leon

Authors
  1. Maurizio Ponz de Leon
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  2. Claudia Bertarelli
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  3. Gian Piero Casadei
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  4. Andrea Grilli
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  5. Patrizia Bacchini
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  6. Monica Pedroni
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  7. Elio Jovine
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Correspondence to Maurizio Ponz de Leon.

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Ponz de Leon, M., Bertarelli, C., Casadei, G.P. et al. A case of pneumatosis cystoides intestinalis mimicking familial adenomatous polyposis. Familial Cancer 12, 573–576 (2013). https://doi.org/10.1007/s10689-012-9587-6

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  • DOI: https://doi.org/10.1007/s10689-012-9587-6

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