Hermansky-Pudlak Syndrome: A Case Report. (20th February 2014)

• Record Type: Journal Article
• Authors: Berber, Ilhami; Erkurt, Mehmet Ali; Kuku, Irfan; Kaya, Emin; Koroglu, Mustafa; Nizam, Ilknur; Gul, Mehmet; Bentli, Recep
• Other Names: Khair K. Academic Editor.; Rund D. Academic Editor.
• Is Part Of: Case reports in hematology. Volume 2014(2014)
• Publication Date: 2014-02-20
• Subjects: Hematology -- Periodicals; Hematology -- Case studies -- Periodicals; Blood -- Diseases -- Periodicals; Hematology; Hematologic Diseases; Blood -- Diseases; Hematology; Electronic journals; Periodicals; Case studies; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 616.15
• DOI: 10.1155/2014/249195
• Languages: English
• ISSNs: 2090-6560

Abstract

Abstract : Objective. The aim of this paper is to report the case of a patient diagnosed with Hermansky-Pudlak syndrome, as a result of bleeding diathesis. Clinical Presentation and Intervention. A 23-year-old male presented with recurrent epistaxis and, upon physical examination, was found to be remarkable for albinism and suborbital ecchymosis. The absence of dense bodies in the platelets was demonstrated using electron microscopy. This patient was (slowly) administered one unit of a platelet suspension, and his bleeding decreased considerably. Conclusion. This case shows that Hermansky-Pudlak syndrome should be considered in the differential diagnosis of a patient presenting with bleeding diathesis, when the clinical presentation also includes oculocutaneous albinism and visual problems.