Diffuse intestinal ganglioneuromatosis an uncommon manifestation of Cowden syndrome

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.

An unusual case of Cowden syndrome associated with ganglioneuromatous polyposis

“…GP is a very rare disorder and may be associated with different syndromes and other preconditions [1–4]. In addition, some patients with a GP also develop adenomatous, other hamartomatous or juvenile colon polyps [2, 9–15].…”

“…The combination of GP with adenocarcinomas of the colon has been reported in a few cases only [3, 12, 16–18]. Although single ganglioneuromas are not unusual in patients with Cowden syndrome [10, 19–21], GP in Cowden syndrome is a rarity [1, 10, 18, 19] and may result in delayed diagnosis in patients with Cowden syndrome [22]. …”

“…Ganglioneuromatous polyposis (GP) is a very rare disorder, and it may be associated with various clinical manifestations and syndromes such as Cowden syndrome, MEN II and NF1 [1–4]. The risk for malignant transformation of ganglioneuromas is unknown, and the combination of GP with colon cancer has been only seldom reported.…”

PTEN Hamartoma Tumour Syndrome:Gastrointestinal Manifestations ofTwo Cases Diagnosed in Singapore

“…There are varied gastrointestinal manifestations of PHTS as detailed in Table 1 [3][4][5][6][7][8][9][10][11][12][13][14][15][16][17], of which upper and lower gastrointestinal tract (GIT) polyposis is most common. PHTS patients are reported to have a wide spectrum of polyp histologies throughout their upper and lower GIT [3,4], with many having more than a single histology [5].…”

“…Intestinal ganglioneuromatosis [11,12,[15][16][17] total risk score of 52 and estimated probability of greater than 99%. Despite meeting the diagnostic criteria, demonstrating gastrointestinal polyp histologies similar to PHTS and in retrospect, having extremely high probabilities of PTEN mutations, there was delayed diagnosis of PHTS for both patients, especially for the female patient.…”