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CASE REPORT
Niemann-Pick disease type C presenting as very early onset inflammatory bowel disease
  1. Chinenye Rebecca Dike,
  2. John Bernat,
  3. Warren Bishop and
  4. Catherine DeGeeter
  1. Stead Family Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA
  1. Correspondence to Dr Chinenye Rebecca Dike, chinenyedike{at}gmail.com

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.

  • crohn’s disease
  • genetics
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Footnotes

  • Contributors CRD wrote the first draft of the manuscript and revised the initial draft based on contributions of all the co-authors. She approved the final version and also obtained the parental consent. JB was involved in the patient’s care and was also involved in critically editing and revising the initial draft and approved the final version after all corrections were made. WB critically edited and revised initial draft and approved the final version after all corrections were made. CDG was involved in the patient’s care, supervised the writing of the first draft and critically edited and revised the first draft. She approved the final version after all corrections were made.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Patient consent for publication Parental/guardian consent obtained.

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