{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T12:14:10Z","timestamp":1753877650681,"version":"3.41.2"},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,8,5]],"date-time":"2021-08-05T00:00:00Z","timestamp":1628121600000},"content-version":"vor","delay-in-days":4,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JPGN rep."],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:sec><jats:label\/><jats:p>PTEN hamartoma syndrome (PTEN\u2010HS) is a rare syndrome including neurologic, neurodevelopmental, integumentary, endocrine, and gastrointestinal manifestations. Eosinophilic disorders of the gastrointestinal system are diverse group of disorders reported to be more common in PTEN\u2010HS. Our patient had malrotation and obstruction in infancy and subsequently developed macrocephaly and a lipoma. She presented at 4 years of age with both iron deficiency anemia and hypoalbuminemia from protein\u2010losing enteropathy. She went on to endoscopy, colonoscopy, and video capsule endoscopy showing gastric, small intestinal, and colonic polyps but with histology including both a mixed histologic characterization of the polyps as expected with PTEN\u2010HS, along with eosinophilic esophagitis, gastric, duodenal, colonic and polyp eosinophilia. She improved with enteral nutritional support and budesonide. Intestinal malrotation is a previously unrecognized feature of PTEN\u2010HS, in our patient protein\u2010losing enteropathy may have resulted from polyposis or eosinophilic gastrointestinal disorder. Albeit rare, PTEN\u2010HS represents an elusive differential diagnosis with a broad spectrum including gastrointestinal symptomatology. Our case report illustrates the overlap of clinical, endoscopic, and histologic findings that can complicate PTEN\u2010HS.<\/jats:p><\/jats:sec>","DOI":"10.1097\/pg9.0000000000000092","type":"journal-article","created":{"date-parts":[[2021,8,5]],"date-time":"2021-08-05T18:07:14Z","timestamp":1628186834000},"source":"Crossref","is-referenced-by-count":0,"title":["PTEN Hamartoma Syndrome in a Child Presenting With Malrotation, Panintestinal Polyps, Severe Anemia, and Protein\u2010Losing Enteropathy"],"prefix":"10.1002","volume":"2","author":[{"given":"Nicole","family":"Stoecklein","sequence":"first","affiliation":[{"name":"Pediatric Gastroenterology Children's Mercy Hospital Kansas City Kansas City MO"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atif A.","family":"Ahmed","sequence":"additional","affiliation":[{"name":"Anatomic Pathology Children's Mercy Hospital Kansas City University of Missouri\u2010Kansas City School of Medicine Kansas City MO"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caitlin E.","family":"Lawson","sequence":"additional","affiliation":[{"name":"Genetics Children's Mercy Hospital Kansas City Kansas City MO"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Attard","sequence":"additional","affiliation":[{"name":"Pediatric Gastroenterology Children's Mercy Hospital Kansas City University of Missouri\u2010Kansas City School of Medicine Kansas City MO"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,8,5]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-11-2283"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31818fd762"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0000000000000253"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.11.013"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.6.476"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0198-12"},{"key":"e_1_2_4_8_1","first-page":"129","volume-title":"Handbook of Clinical Neurology","author":"Mester J","year":"2015"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00383-012-3245-9"},{"key":"e_1_2_4_10_1","first-page":"140616","article-title":"A novel SMAD4 mutation causing severe juvenile polyposis syndrome with protein losing enteropathy, immunodeficiency, and hereditary haemorrhagic telangiectasia","volume":"2015","author":"Johansson J","year":"2015","journal-title":"Case Rep Gastrointest Med"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-104484"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2014-305997"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35731"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0b013e31803219d5"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gtc.2014.02.013"}],"container-title":["JPGN Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1097\/PG9.0000000000000092","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,12]],"date-time":"2025-06-12T14:33:46Z","timestamp":1749738826000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1097\/PG9.0000000000000092"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8]]},"references-count":14,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2021,8]]}},"alternative-id":["10.1097\/PG9.0000000000000092"],"URL":"https:\/\/doi.org\/10.1097\/pg9.0000000000000092","archive":["Portico"],"relation":{},"ISSN":["2691-171X","2691-171X"],"issn-type":[{"type":"print","value":"2691-171X"},{"type":"electronic","value":"2691-171X"}],"subject":[],"published":{"date-parts":[[2021,8]]},"article-number":"e092"}}