Familial Cancer

, Volume 12, Issue 3, pp 573–576 | Cite as

A case of pneumatosis cystoides intestinalis mimicking familial adenomatous polyposis

  • Maurizio Ponz de Leon
  • Claudia Bertarelli
  • Gian Piero Casadei
  • Andrea Grilli
  • Patrizia Bacchini
  • Monica Pedroni
  • Elio Jovine
Short Communication


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.


Colon Rectum Polyp Pneumatosis Cystoides Tumor 


Conflicts of interest

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


  1. 1.
    Naylor EW, Lebenthal E (1980) Gardner’s syndrome. Recent developments in research and management. Dig Dis Sci 25:945–959PubMedCrossRefGoogle Scholar
  2. 2.
    Lynch HT, Tinley ST, Lynch J et al (1997) Familial adenomatous polyposis : discovery of a family and its management in a cancer genetics clinic. Cancer Suppl 80:614–620CrossRefGoogle Scholar
  3. 3.
    Galiatsatos P, Foulkes WD (2006) Familial adenomatous polyposis. Am J Gastroenterol 101:385–398PubMedCrossRefGoogle Scholar
  4. 4.
    Goss KH, Groden J (2000) Biology of the adenomatous polyposis coli tumor suppressor. J Clin Oncol 18:1967–1979PubMedGoogle Scholar
  5. 5.
    Al-Tassan N, Chmiel NH, Maynard J et al (2002) Inherited variants of MYH associated with somatic G:C– > T:a mutations in colorectal tumors. Nat Genet 30:227–232PubMedCrossRefGoogle Scholar
  6. 6.
    Ziv Y, Church JM, Oakley JR et al (1995) Surgery for the teenager with familial adenomatous polyposis: ileo-rectal anastomosis or restorative proctocolectomy? Int J Colorectal Dis 10:6–9PubMedCrossRefGoogle Scholar
  7. 7.
    Nieuwenhuis MH, Bülow S, Björk J et al (2009) Genotype predicting phenotype in familial adenomatous polyposis: a practical application to the choice of surgery. Dis Colon Rectum 52:1259–1263PubMedCrossRefGoogle Scholar
  8. 8.
    Galandiuk S, Fazio VW, Petras RE (1985) Pneumatosis cystoides intestinalis in Crohn’s disease. Report of two cases. Dis Colon Rectum 28:951–956PubMedCrossRefGoogle Scholar
  9. 9.
    St Peter SD, Abbas MA, Kelly KA (2003) The spectrum of pneumatosis intestinalis. Arch Surg 138:68–75PubMedCrossRefGoogle Scholar
  10. 10.
    Gagliardi G, Thompson IW, Hershman MJ et al (1996) Pneumatosis coli: a proposed pathogenesis based on study of 25 cases and review of the literature. Int J Colorectal Dis 11:111–118PubMedCrossRefGoogle Scholar
  11. 11.
    Shuck JM, Malan LJ, Hammar MD (1974) Pneumatosis cystoides intestinals due to blunt abdominal trauma. J Trauma 14:435–440PubMedCrossRefGoogle Scholar
  12. 12.
    Jensen R, Gutnik SH (1991) Pneumatosis cystoides intestinalis: a complication of colonoscopic polypectomy. S D J Med 44:177–179PubMedGoogle Scholar
  13. 13.
    Pun YL, Russell DM, Taggart GJ et al (1991) Pneumatosis intestinalis and pneumoperitoneum complicating mixed connective tissue disease. Br J Rheumatol 30:146–149PubMedCrossRefGoogle Scholar
  14. 14.
    Chen CK, Ting CF, Yii CY et al (2011) Acute mesenteric ischemia complicated with pneumoperitoneum, pneumoporta, and pneumatosis intestinalis. Intern Med 50:1351PubMedCrossRefGoogle Scholar
  15. 15.
    Duron VP, Rutigliano S, Machan JT et al (2011) Computed tomographic diagnosis of pneumatosis intestinalis: clinical measures predictive of the need for surgical intervention. Arch Surg 146:506–510PubMedCrossRefGoogle Scholar
  16. 16.
    Heng Y, Schuffler MD, Haggitt RC et al (1995) Pneumatosis intestinalis: a review. Am J Gastroenterol 90:1747–1758PubMedGoogle Scholar
  17. 17.
    Amrein K, Högenauer C, Spreizer C et al (2011) Pneumatosis coli–an underrecognized lesion mimicking neoplastic disease. Wien Klin Wochenschr 123:515–518PubMedCrossRefGoogle Scholar
  18. 18.
    Azami Y (2000) Paralytic ileus accompanied by pneumatosis cystoides intestinalis after acarbose treatment in an elderly diabetic patient with a history of heavy intake of maltitol. Intern Med 39:826–829PubMedCrossRefGoogle Scholar
  19. 19.
    Saito M, Tanikawa A, Nakasute K et al (2007) Additive contribution of multiple factors in the development of pneumatosis intestinalis: a case report and review of the literature. Clin Rheumatol 26:601–603PubMedCrossRefGoogle Scholar
  20. 20.
    Vogel Y, Buchner NJ, Szpakowski M et al (2009) Pneumatosis cystoides intestinalis of the ascending colon related to acarbose treatment: a case report. J Med Case Rep 3:9216PubMedCrossRefGoogle Scholar
  21. 21.
    Wu SS, Yen HH (2011) Pneumatosis cystoides intestinalis. N Engl J Med 365:e16PubMedCrossRefGoogle Scholar
  22. 22.
    Kurbegov AC, Sondheimer JM (2001) Pneumatosis intestinalis in non-neonatal pediatric patients. Pediatrics 108:402–406PubMedCrossRefGoogle Scholar
  23. 23.
    Levine JS, Ahnen DJ (2006) Adenomatous polyps of the colon. N Engl J Med 355:2551–2557PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media Dordrecht 2012

Authors and Affiliations

  • Maurizio Ponz de Leon
    • 1
    • 5
  • Claudia Bertarelli
    • 2
  • Gian Piero Casadei
    • 2
  • Andrea Grilli
    • 3
  • Patrizia Bacchini
    • 3
  • Monica Pedroni
    • 1
  • Elio Jovine
    • 4
  1. 1.Dipartimento di Medicina InternaUniversità di Modena e Reggio EmiliaModenaItaly
  2. 2.Anatomia PatologicaOspedale MaggioreBolognaItaly
  3. 3.Endoscopia Digestiva e Anatomia PatologicaCasa di Cura Villa ErbosaBolognaItaly
  4. 4.Dipartimento Chirurgico, Chirurgia AOspedale MaggioreBolognaItaly
  5. 5.Dipartimento di Medicina DiagnosticaClinica e di Sanità Pubblica, PoliclinicoModenaItaly

Personalised recommendations