Pranjal Singh, Dawesh Prakash Yadav*, Vinod Kumar Yadav, Anurag Kumar Tiwari, Sunit Kumar Shukla. Ishan Mittal, Maadhav Gopal Bansal and Nitesh Patel

Department of Gastroenterology, Institute of Medical Sciences, Banaras Hindu University, India

*Corresponding Author: Dawesh Prakash Yadav, Department of Gastroenterology, Institute of Medical Sciences, Banaras Hindu University, India.

Received: January 07, 2025; Published: January 17, 2025

Abstract

An Indian boy of age around 4 years, born out of consanguineous marriage between healthy parents with chalky white skin, brownish hair, and grey eyes, representing oculocutaneous albinism presented with diarrhea, pain abdomen and fever for a duration of 4 months. Past history includes episodes of spontaneous nasal and gum bleed along with recurrent appearance of patches of bluish discoloration of skin involving extremities which resolved spontaneously without treatment. He was evaluated for the same and was diagnosed with Crohn’s-like inflammatory bowel disease based on the endoscopic finding of longitudinal ulcerations in the colon and the histopathologic findings of chronic inflammation with granulomas. He was treated with corticosteroids but failed to improve clinically or biochemically. Based on the spectrum of oculocutaneous albinism, probable platelet dysfunction and inflammatory bowel disease a diagnosis of Hermansky-Pudlak syndrome was made which was confirmed on genetic screen using next-generation sequencing in a targeted gene panel analysis for primary immunodeficiency disease and/or inflammatory bowel disease. The patient proved to have homozygous mutation of HPS4 gene resulting in Hermansky-Pudlak syndrome type 4. The patient was started with infliximab which failed to produce sustained clinical response highlighting the difficulties in managing monogenic forms of inflammatory bowel disease.

Keywords: Very Early-Onset Inflammatory Bowel Disease; Hermansky-Pudlak Syndrome; Monogenic Inflammatory Bowel Disease; Biologicals

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Citation

Citation: Dawesh Prakash Yadav., et al. “Very Early-Onset Inflammatory Bowel Disease in a Patient with Rare Genetic Syndrome". Acta Scientific Gastrointestinal Disorders 8.2 (2025): 32-34.

Copyright

Copyright: © 2025 Dawesh Prakash Yadav., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.