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Slovenska pediatrija 2022; 29: 149-153

https://doi.org/10.38031/slovpediatr-2022-3-05en

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Case report

HERMANSKY-PUDLAK SYNDROME AND GRANULOMATOUS BOWEL INFLAMMATION – REVIEW ARTICLE AND CASE REPORT

Urška Berden
Zdravstveni dom Ljubljana, Ljubljana, Slovenija

Lidija Kitanovski
Klinični oddelek za otroško hematologijo in onkologijo, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

Darja Urlep
Klinični oddelek za gastroenterologijo, hepatologijo in nutricionistiko, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

Abstract

Hermansky-Pudlak syndrome (HPS) is a very rare genetically and phenotypically heterogeneous multisystemic disorder. It is mainly caused by impaired trafficking to lysosome-related organelles. Eleven genetic subtypes of HPS are currently recognised. All subtypes share the common phenotypic features of oculocutaneous albinism and a bleeding diathesis due to thrombocyte dysfunction. Accumulation of ceroid lipofuscin in the reticuloendothelial system of different organs is also common. In some subtypes of HPS, especially in HPS-1 and HPS-4, Crohn’s disease - like granulomatous bowel disease can develop. In this article, the only case of a girl with HPS-1 and granulomatous bowel disease diagnosed in Slovenia is presented. She has colitis of the small and large bowel, with clinical, endoscopic, and histopathological characteristics of Crohn’s disease.

Key words: Hermansky-Pudlak syndrome, granulomatous inflammation of the intestine, Crohn’s disease, infliximab