A Rare Case of Celiac Disease in a Young Male Child with Hermansky-Pudlak Syndrome

Dr Richa P. Harwani; Dr. Oneza Kothawala; Dr Tushar Jadhav; Dr Sukaina Furniturewala; Dr Aarati Kinikar

Volume : IX, Issue : VI, June - 2020

A Rare Case of Celiac Disease in a Young Male Child with Hermansky-Pudlak Syndrome

Dr Richa P. Harwani, Dr. Oneza Kothawala, Dr Tushar Jadhav, Dr Sukaina Furniturewala, Dr Aarati Kinikar

Abstract :

Hermansky-Pudlak syndrome (HPS) is a disorder caused by 10 different genotypes, characterized by oculo-cutaneous albinism, bleeding and systemic manifestation attributed to aberrant vesicle formation occurring in melanosomes, platelet dense bodies and certain lysosomal subtypes. We report eight year old male with severe anemia and oculo-cutaneous albinism with complaints of bloody diarrhea, vomiting, and abdominal pain since one month. Electron microscopy revealed absent delta granules in platelets, hence a diagnosis of HPS was made. Serological- histopathological findings for gastrointestinal manifestations suggested celiac disease. After this diagnosis, he was started on gluten-free diet to which he responded and improved during his hospital stay but condition at home worsened few months later where he unfortunately expired. Because of his severe presentation we can consider the course to be complicated by underlying HPS or celiac crises. Our case explores the association, diagnostic and management difficulty of celiac disease and Hermansky-Pudlak Syndrome