Niemann-Pick disease type C presenting as very early onset inflammatory bowel disease

• Published in: BMJ case reports 2019-07, Vol.12 (7), p.e229780
• Main Authors: Dike, Chinenye Rebecca, Bernat, John, Bishop, Warren, DeGeeter, Catherine
• Format: Article
• Language: English
• Subjects: 2-Hydroxypropyl-beta-cyclodextrin - therapeutic use; Adalimumab - therapeutic use; Anti-Inflammatory Agents - therapeutic use; Autophagy; Brain diseases; Case reports; Celiac disease; Child, Preschool; Cholesterol; Colonoscopy; Consent; Crohn's disease; Excipients - therapeutic use; Flow cytometry; Genetic disorders; Humans; Immunology; Incidental Findings; Inflammatory bowel disease; Inflammatory Bowel Diseases - complications; Inflammatory Bowel Diseases - physiopathology; Inflammatory Bowel Diseases - therapy; Male; Metabolic disorders; Monoclonal antibodies; Mutation; Niemann-Pick Disease, Type C - diagnosis; Niemann-Pick Disease, Type C - physiopathology; Niemann-Pick Disease, Type C - therapy; Rare Disease; Schizophrenia; Splenomegaly - diagnosis; Treatment Outcome; Ultrasonic imaging
• ISSN: 1757-790X; 1757-790X
• DOI: 10.1136/bcr-2019-229780

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.