NDLI: Infantile-onset inflammatory bowel disease in a patient with Hermansky-Pudlak syndrome: a case report

Content Provider	Springer Nature : BioMed Central
Author	Ishihara, Jun Mizuochi, Tatsuki Uchida, Takashi Takaki, Yugo Konishi, Ken-ichiro Joo, Masahiko Takahashi, Yasuhiko Yoshioka, Shinichiro Kusano, Hironori Sasahara, Yoji Yamashita, Yushiro
Abstract	Background Hermansky-Pudlak syndrome (HPS) is a rare, genetically heterogeneous disorder that manifests oculocutaneous albinism together with bleeding diatheses that reflect a platelet storage pool deficiency. Ten genetic subtypes of this autosomal recessive condition have been described to date. Some patients with Hermansky-Pudlak syndrome type 1, 4, or 6 develop Crohn’s-like inflammatory bowel disease at any age including early childhood, but most often in adolescence or young adulthood. Here we report infantile-onset of inflammatory bowel disease in a patient with Hermansky-Pudlak syndrome type 1 who responded to infliximab. Case presentation A Japanese boy, the second child of non-consanguineous healthy parents, was born with chalky white skin, silvery-white hair, and gray eyes, representing oculocutaneous albinism. He developed frequent diarrhea and fever accompanied by weight loss at 6 months, and was diagnosed with Crohn’s-like inflammatory bowel disease based on the endoscopic finding of longitudinal ulcerations in the colon and the histopathologic finding of nonspecific chronic inflammation without granulomas at the age of 11 months. Treatment with an elemental diet, salazosulfapyridine, and corticosteroids failed to improve clinical or laboratory abnormalities, and the diarrhea became bloody. At 13 months he began treatment with infliximab, which produced marked improvement followed by clinical remission. Endoscopy at 20 months demonstrated healing of the colonic mucosa. At 22 months he is in sustained clinical remission receiving only infliximab. Because albinism with inflammatory bowel disease suggested Hermansky-Pudlak syndrome, we performed genetic screening using next-generation sequencing in a targeted gene panel analysis for primary immunodeficiency disease and/or inflammatory bowel disease. The patient proved to have a compound heterozygous mutation of the HPS1 gene resulting in Hermansky-Pudlak syndrome type 1. Conclusions We consider this report to be the first account of type 1 Hermansky-Pudlak syndrome with infantile-onset of inflammatory bowel disease. Early administration of infliximab was effective. We recommend next-generation sequencing for patients with very early-onset inflammatory bowel disease suspected to be monogenic.
Related Links	https://bmcgastroenterol.biomedcentral.com/counter/pdf/10.1186/s12876-019-0929-9.pdf
Ending Page	4
Page Count	4
Starting Page	1
File Format	HTM / HTML
DOI	10.1186/s12876-019-0929-9
Journal	BMC Gastroenterology
Issue Number	1
Volume Number	19
Language	English
Publisher	BioMed Central
Publisher Date	2019-01-11
Access Restriction	Open
Subject Keyword	Gastroenterology Internal Medicine Hepatology Hermansky-Pudlak syndrome Early-onset inflammatory bowel disease Monogenic inflammatory bowel disease Infliximab
Content Type	Text
Resource Type	Case study
Subject	Gastroenterology
Journal Impact Factor	2.5/2023
5-Year Journal Impact Factor	2.7/2023

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