{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T08:03:46Z","timestamp":1792569826753,"version":"4.5.0"},"reference-count":16,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2015,5,5]],"date-time":"2015-05-05T00:00:00Z","timestamp":1430784000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,9]]},"abstract":"<jats:sec><jats:label\/><jats:p>Primary intestinal lymphangiectasia (PIL) is a rare protein\u2010losing enteropathy characterized by a congenital malformation of the lymphatic vessels of the small intestine causing insufficient drainage and leakage of lymph fluid. Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by benign hamartomas in multiple organ systems. While the lymphatic system has been implicated in TSC through lymphangioleiomyomatosis (LAM) and lymphedema, this paper reports the first case of PIL in TSC, a female patient with a <jats:italic>TSC2<\/jats:italic> mutation. She developed persistent and significant abdominal distension with chronic diarrhea during her first year of life. Due to lack of treatment options and the involvement of the mTOR pathway in TSC, a trial of an mTOR inhibitor, rapamycin, was initiated. This treatment was highly effective, with improvement in clinical symptoms of PIL as well as abnormal laboratory values including VEGF\u2010C, which was elevated to over seven times the normal upper limit before treatment. This case suggests that PIL is a rare manifestation of TSC, warranting the use of mTOR inhibitors in future studies. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37148","type":"journal-article","created":{"date-parts":[[2015,5,5]],"date-time":"2015-05-05T22:44:53Z","timestamp":1430865893000},"page":"2209-2212","source":"Crossref","is-referenced-by-count":26,"title":["Primary intestinal lymphangiectasia treated with rapamycin in a child with tuberous sclerosis complex (TSC)"],"prefix":"10.1002","volume":"167","author":[{"given":"Sarah F.","family":"Pollack","sequence":"first","affiliation":[{"name":"Department of Neurology Herscot Center for Tuberous Sclerosis Complex Massachusetts General Hospital Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra L.","family":"Geffrey","sequence":"additional","affiliation":[{"name":"Department of Neurology Herscot Center for Tuberous Sclerosis Complex Massachusetts General Hospital Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth A.","family":"Thiele","sequence":"additional","affiliation":[{"name":"Department of Neurology Herscot Center for Tuberous Sclerosis Complex Massachusetts General Hospital Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uzma","family":"Shah","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology Hepatology and Nutrition Massachusetts General Hospital Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,5,5]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra055323"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/316951"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.mpg.0000233192.77521.2f"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa050010"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36469"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1746.2007.05225.x"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/9783527630073"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1100391"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.4253\/wjge.v3.i11.235"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073813499969"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-3-5"},{"key":"e_1_2_5_13_1","article-title":"Sirolimus for progressive neurofibromatosis type 1\u2010associated plexiform neurofibromas: A Neurofibromatosis Clinical Trials Consortium phase II study","author":"Weiss B","year":"2014","journal-title":"Neuro Oncol"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10620-010-1161-1"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1159\/000348763"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.rmed.2012.10.006"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2213-2600(13)70090-0"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37148","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37148","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T14:52:33Z","timestamp":1696603953000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37148"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,5,5]]},"references-count":16,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2015,9]]}},"alternative-id":["10.1002\/ajmg.a.37148"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37148","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,5,5]]}}}