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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BMC
2019-01-01
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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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institution | Directory Open Access Journal |
issn | 1471-230X |
language | English |
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publishDate | 2019-01-01 |
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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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