{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T18:11:06Z","timestamp":1782151866436,"version":"3.54.5"},"reference-count":11,"publisher":"BMJ","issue":"7","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2019,7,8]]},"published-print":{"date-parts":[[2019,7]]},"abstract":"<jats:p>Niemann-Pick disease type C (NPC) has been reported in association with inflammatory bowel disease. In cases where colitis has been reported in association with NPC, the neurological manifestations of NPC often precede the development of colitis. We report a rare case of a child who presented at age 2 with perianal Crohn\u2019s disease. Initial imaging studies to characterise the disease revealed an incidental finding of splenomegaly. Extensive workup for splenomegaly revealed NPC1 mutations consistent with NPC disease. He did not have any typical neurological symptoms at the time of his diagnosis. He is currently doing well on biweekly adalimumab injections for his Crohn\u2019s disease and biweekly intrathecal injections of 2-hydroxypropyl-\u03b2-cyclodextrin (VTS-270) for the NPC.<\/jats:p>","DOI":"10.1136\/bcr-2019-229780","type":"journal-article","created":{"date-parts":[[2019,7,27]],"date-time":"2019-07-27T11:46:21Z","timestamp":1564227981000},"page":"e229780","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":10,"title":["Niemann-Pick disease type C presenting as very early onset inflammatory bowel disease"],"prefix":"10.1136","volume":"12","author":[{"given":"Chinenye Rebecca","family":"Dike","sequence":"first","affiliation":[{"name":"Stead Family Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Bernat","sequence":"additional","affiliation":[{"name":"Stead Family Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Warren","family":"Bishop","sequence":"additional","affiliation":[{"name":"Stead Family Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"DeGeeter","sequence":"additional","affiliation":[{"name":"Stead Family Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2019,7,27]]},"reference":[{"key":"2025082707280173000_12.7.e229780.1","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1186\/s13023-018-0785-7","article-title":"Consensus clinical management guidelines for Niemann-Pick disease type C","volume":"13","author":"Geberhiwot","year":"2018","journal-title":"Orphanet J Rare Dis"},{"key":"2025082707280173000_12.7.e229780.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2005.07.007"},{"key":"2025082707280173000_12.7.e229780.3","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/0925-4439(94)90001-9","article-title":"The Niemann-pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterol","volume":"1225","author":"Pentchev","year":"1994","journal-title":"Biochim Biophys Acta"},{"key":"2025082707280173000_12.7.e229780.4","doi-asserted-by":"crossref","first-page":"3411","DOI":"10.1016\/S0021-9258(18)69086-6","article-title":"Type C Niemann-Pick disease. Lysosomal accumulation and defective intracellular mobilization of low density lipoprotein cholesterol","volume":"263","author":"Sokol","year":"1988","journal-title":"J Biol Chem"},{"key":"2025082707280173000_12.7.e229780.5","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-16"},{"key":"2025082707280173000_12.7.e229780.6","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/j.jbior.2018.08.001","article-title":"Niemann-Pick type C disease: the atypical sphingolipidosis","volume":"70","author":"Newton","year":"2018","journal-title":"Adv Biol Regul"},{"key":"2025082707280173000_12.7.e229780.7","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1186\/s12883-018-1124-2","article-title":"Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report","volume":"18","author":"Kawazoe","year":"2018","journal-title":"BMC Neurol"},{"key":"2025082707280173000_12.7.e229780.8","doi-asserted-by":"crossref","first-page":"292","DOI":"10.3389\/fendo.2018.00292","article-title":"First prenatal diagnosis of a Niemann-pick disease type C2 revealed by a cystic hygroma: a case report and review of the literature","volume":"9","author":"Ples","year":"2018","journal-title":"Front Endocrinol"},{"key":"2025082707280173000_12.7.e229780.9","doi-asserted-by":"publisher","DOI":"10.1177\/014107688307600414"},{"key":"2025082707280173000_12.7.e229780.10","doi-asserted-by":"publisher","DOI":"10.1136\/gutjnl-2015-310382"},{"key":"2025082707280173000_12.7.e229780.11","doi-asserted-by":"publisher","DOI":"10.1177\/003693300505000213"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2019-229780","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T14:28:11Z","timestamp":1756304891000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2019-229780"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7]]},"references-count":11,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2019,7,27]]},"published-print":{"date-parts":[[2019,7]]}},"alternative-id":["10.1136\/bcr-2019-229780"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2019-229780","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,7]]}}}