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. 2013 Feb 15;5(2):34-7.
doi: 10.4251/wjgo.v5.i2.34.

Diffuse intestinal ganglioneuromatosis an uncommon manifestation of Cowden syndrome

Maria Teresa Herranz Bachiller  1 , Jesus Barrio Andrés, Fernando Pons, Noelia Alcaide Suárez, Rafael Ruiz-Zorrilla, Lorena Sancho Del Val, Sara Lorenzo Pelayo, Carlos De La Serna Higuera, Ramon Atienza Sánchez, Manuel Perez Miranda
Affiliations

Diffuse intestinal ganglioneuromatosis an uncommon manifestation of Cowden syndrome

Maria Teresa Herranz Bachiller et al. World J Gastrointest Oncol. .

Abstract

Diffuse intestinal ganglioneuromatosis is a hamartomatous polyposis characterized by a disseminated, intramural or transmural proliferation of neural elements involving the enteric plexuses. It has been associated with MEN II, neurofibromatosis type 1 and hamartomatous polyposis associated with phosphatase and tensin homolog mutation. We report the case of a female patient with a history of a breast and endometrial tumor who presented in a colonoscopy performed for rectal bleeding diffuse ganglioneuromatosis, which oriented the search for other characteristic findings of Cowden syndrome given the personal history of the patient. The presence of an esophagogastric polyposis was also noted. Cowden syndrome is characterized by skin lesions, but it is rarely diagnosed by these lesions, because they are usually overlooked. Intestinal polyposis is not a major diagnostic criterion but it is very useful for early diagnosis. The combination of colonic polyposis and glucogenic acanthosis should orient the diagnosis to Cowden syndrome.

Keywords: Cowden síndrome; Ganglioneuromatosis; Gastrointestinal poliposis; Hamartoma; Phosphatase and tensin homolog.

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Figures

Figure 1
Figure 1
Pathological study revealed diffuse intestinal ganglioneuromatosis.
Figure 2
Figure 2
A gastroscopy was subsequently performed showing esophagic (A, B) and gastric polyposis (C).
See this image and copyright information in PMC

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