Türk, Adem Karadeniz Teknik Üniversitesi - Tıp Fakültesi - Göz Hastalıkları Anabilim Dalı, Turkey , Fidan, Sami Karadeniz Teknik Üniversitesi - Tıp Fakültesi - Dahiliye AD, Turkey , Uzun, Yusuf Karadeniz Teknik Üniversitesi - Tıp Fakültesi - Dahiliye AD, Turkey , Ersöz, Şafak Karadeniz Technical University - School of Medicine - Departments of Pathology, Turkey

Clinical Features of a Case with Hermansky-Pudlak Syndrome

20020

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder consisting of oculocutaneous albinism, bleeding diathesis, and systemic complications associated with the deposition of an abnormal ceroid-like lipofuscin pigment in the tissues. In this study, we report a 19 year old female HPS case who was admitted to our clinic due to her gastroenterological problems. Her colonoscopic and pathological investigations were consistent with granulomatous colitis. She had also clinical findings of oculocutaneous albinism and platelet dysfunction.Furthermore, optical coherence tomography investigation yielded bilateral foveal hypoplasia. In this study, we presented the case and discussed the diagnosis and treatment of HPS with reference to previous studies.

146

Albinism , Hermansky , Pudlak syndrome , platelet function tests , vision disorders

Gulhane Medical Journal

149