PT  - JOURNAL ARTICLE
AU  - Chinenye Rebecca Dike
AU  - John Bernat
AU  - Warren Bishop
AU  - Catherine DeGeeter
TI  - Niemann-Pick disease type C presenting as very early onset inflammatory bowel disease
AID  - 10.1136/bcr-2019-229780
DP  - 2019 Jul 01
TA  - BMJ Case Reports
PG  - e229780
VI  - 12
IP  - 7
4099  - http://casereports.bmj.com/content/12/7/e229780.short
4100  - http://casereports.bmj.com/content/12/7/e229780.full
SO  - BMJ Case Reports2019 Jul 01; 12
AB  - 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.