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Niemann-Pick disease type C presenting as very early onset inflammatory bowel disease.
- Source :
-
BMJ case reports [BMJ Case Rep] 2019 Jul 27; Vol. 12 (7). Date of Electronic Publication: 2019 Jul 27. - Publication Year :
- 2019
-
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-β-cyclodextrin (VTS-270) for the NPC.<br />Competing Interests: Competing interests: None declared.<br /> (© BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.)
- Subjects :
- Child, Preschool
Humans
Incidental Findings
Inflammatory Bowel Diseases physiopathology
Inflammatory Bowel Diseases therapy
Male
Niemann-Pick Disease, Type C physiopathology
Niemann-Pick Disease, Type C therapy
Treatment Outcome
2-Hydroxypropyl-beta-cyclodextrin therapeutic use
Adalimumab therapeutic use
Anti-Inflammatory Agents therapeutic use
Excipients therapeutic use
Inflammatory Bowel Diseases complications
Niemann-Pick Disease, Type C diagnosis
Splenomegaly diagnosis
Subjects
Details
- Language :
- English
- ISSN :
- 1757-790X
- Volume :
- 12
- Issue :
- 7
- Database :
- MEDLINE
- Journal :
- BMJ case reports
- Publication Type :
- Academic Journal
- Accession number :
- 31352388
- Full Text :
- https://doi.org/10.1136/bcr-2019-229780