Journal article
Niemann-Pick disease type C presenting as very early onset inflammatory bowel disease
BMJ case reports, Vol.12(7), p.e229780
03/01/2019
DOI: 10.1136/bcr-2019-229780
PMCID: PMC6663221
PMID: 31352388
Abstract
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's 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's disease and biweekly intrathecal injections of 2-hydroxypropyl-beta -cyclodextrin (VTS-270) for the NPC.
Details
- Title: Subtitle
- Niemann-Pick disease type C presenting as very early onset inflammatory bowel disease
- Creators
- Chinenye Rebecca Dike - University of IowaJohn Bernat - University of IowaWarren Bishop - University of IowaCatherine DeGeeter - University of Iowa
- Resource Type
- Journal article
- Publication Details
- BMJ case reports, Vol.12(7), p.e229780
- Publisher
- Bmj Publishing Group
- DOI
- 10.1136/bcr-2019-229780
- PMID
- 31352388
- PMCID
- PMC6663221
- ISSN
- 1757-790X
- eISSN
- 1757-790X
- Number of pages
- 3
- Language
- English
- Date published
- 03/01/2019
- Academic Unit
- Stead Family Department of Pediatrics; Medical Genetics and Genomics; Gastroenterology, Hepatology, Pancreatology, and Nutrition
- Record Identifier
- 9984353880702771
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