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Intestinal Ganglioneuromatosis: Unusual Presentation of Cowden Syndrome Resulting in Delayed Diagnosis
Author(s) -
Vinitsky Anna,
Zaleski Christina A.,
Sajjad Sayed M.,
McPherson Elizabeth W.
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35731
Subject(s) - cowden syndrome , medicine , hyperplastic polyp , hamartoma , pathology , intestinal polyp , pten , macrocephaly , colonoscopy , ganglioneuroma , peutz–jeghers syndrome , gastroenterology , colorectal cancer , cancer , biology , apoptosis , biochemistry , genetics , pi3k/akt/mtor pathway , cell culture , neuroblastoma
We report on a 25‐year‐old woman who presented as a teenager with macrocephaly and multiple gastrointestinal lesions including ganglioneuromas, hamartomas, lipomas, juvenile, and hyperplastic polyps in association with extra‐intestinal tumors including a retroperitoneal lipoma, storiform collagenoma, and a fibrolipomatous hamartoma. PTEN mutation analysis identified a deletion in exon 2, confirming the diagnosis of Cowden syndrome. While intestinal polyps are common among Cowden patients who undergo endoscopy, and intestinal ganglioneuromas are occasionally reported, they are not usual presenting manifestations. Intestinal ganglioneuromatosis is divided into three subgroups: (1) polypoid ganglioneuromatosis (usually few isolated ganglioneuromas), (2) generalized ganglioneuromatosis (usually associated with NF1 or MEN), and (3) ganglioneuromatous polyposis without known systemic disease, although there are several reported patients with multiple lipomas. This individual with Cowden syndrome closely resembles the latter group, thus we suggest that patients with ganglioneuromatous polyposis, especially in association with lipomas, should be evaluated for possible Cowden syndrome. © 2013 Wiley Periodicals, Inc.