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

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...

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Main Authors: Jun Ishihara, Tatsuki Mizuochi, Takashi Uchida, Yugo Takaki, Ken-ichiro Konishi, Masahiko Joo, Yasuhiko Takahashi, Shinichiro Yoshioka, Hironori Kusano, Yoji Sasahara, Yushiro Yamashita
Format: Article
Language:English
Published: BMC 2019-01-01
Series:BMC Gastroenterology
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Online Access:http://link.springer.com/article/10.1186/s12876-019-0929-9
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author Jun Ishihara
Tatsuki Mizuochi
Takashi Uchida
Yugo Takaki
Ken-ichiro Konishi
Masahiko Joo
Yasuhiko Takahashi
Shinichiro Yoshioka
Hironori Kusano
Yoji Sasahara
Yushiro Yamashita
author_facet Jun Ishihara
Tatsuki Mizuochi
Takashi Uchida
Yugo Takaki
Ken-ichiro Konishi
Masahiko Joo
Yasuhiko Takahashi
Shinichiro Yoshioka
Hironori Kusano
Yoji Sasahara
Yushiro Yamashita
author_sort Jun Ishihara
collection DOAJ
description 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.
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spelling doaj.art-7675bf8fb52741e7804fbe1ccbcc081e2022-12-21T22:32:59ZengBMCBMC Gastroenterology1471-230X2019-01-011911410.1186/s12876-019-0929-9Infantile-onset inflammatory bowel disease in a patient with Hermansky-Pudlak syndrome: a case reportJun Ishihara0Tatsuki Mizuochi1Takashi Uchida2Yugo Takaki3Ken-ichiro Konishi4Masahiko Joo5Yasuhiko Takahashi6Shinichiro Yoshioka7Hironori Kusano8Yoji Sasahara9Yushiro Yamashita10Department of Pediatrics and Child Health, Kurume University School of MedicineDepartment of Pediatrics and Child Health, Kurume University School of MedicineDepartment of Pediatrics, Tohoku University Graduate School of MedicineDepartment of Pediatrics and Child Health, Kurume University School of MedicineDepartment of Pediatrics and Child Health, Kurume University School of MedicineDepartment of Pediatrics, Japan Community Healthcare Organization, Kyushu HospitalDepartment of Pediatrics, Japan Community Healthcare Organization, Kyushu HospitalDivision of Gastroenterology, Department of Medicine, Kurume University School of MedicineDepartment of Pathology, Kurume University School of MedicineDepartment of Pediatrics, Tohoku University Graduate School of MedicineDepartment of Pediatrics and Child Health, Kurume University School of MedicineAbstract 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.http://link.springer.com/article/10.1186/s12876-019-0929-9Hermansky-Pudlak syndromeEarly-onset inflammatory bowel diseaseMonogenic inflammatory bowel diseaseInfliximab
spellingShingle Jun Ishihara
Tatsuki Mizuochi
Takashi Uchida
Yugo Takaki
Ken-ichiro Konishi
Masahiko Joo
Yasuhiko Takahashi
Shinichiro Yoshioka
Hironori Kusano
Yoji Sasahara
Yushiro Yamashita
Infantile-onset inflammatory bowel disease in a patient with Hermansky-Pudlak syndrome: a case report
BMC Gastroenterology
Hermansky-Pudlak syndrome
Early-onset inflammatory bowel disease
Monogenic inflammatory bowel disease
Infliximab
title Infantile-onset inflammatory bowel disease in a patient with Hermansky-Pudlak syndrome: a case report
title_full Infantile-onset inflammatory bowel disease in a patient with Hermansky-Pudlak syndrome: a case report
title_fullStr Infantile-onset inflammatory bowel disease in a patient with Hermansky-Pudlak syndrome: a case report
title_full_unstemmed Infantile-onset inflammatory bowel disease in a patient with Hermansky-Pudlak syndrome: a case report
title_short Infantile-onset inflammatory bowel disease in a patient with Hermansky-Pudlak syndrome: a case report
title_sort infantile onset inflammatory bowel disease in a patient with hermansky pudlak syndrome a case report
topic Hermansky-Pudlak syndrome
Early-onset inflammatory bowel disease
Monogenic inflammatory bowel disease
Infliximab
url http://link.springer.com/article/10.1186/s12876-019-0929-9
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