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Hermansky-Pudlak Syndrome : A Case Report
Joint Authors
Berber, Ilhami
Erkurt, Mehmet Ali
Gul, Mehmet
Bentli, Recep
Kuku, Irfan
Koroglu, Mustafa
Kaya, Emin
Nizam, Ilknur
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-02-20
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Berber, Ilhami& Erkurt, Mehmet Ali& Kuku, Irfan& Kaya, Emin& Koroglu, Mustafa& Nizam, Ilknur…[et al.]. 2014. Hermansky-Pudlak Syndrome : A Case Report. Case Reports in Hematology،Vol. 2014, no. 2014, pp.1-3.
https://search.emarefa.net/detail/BIM-457277
Modern Language Association (MLA)
Berber, Ilhami…[et al.]. Hermansky-Pudlak Syndrome : A Case Report. Case Reports in Hematology No. 2014 (2014), pp.1-3.
https://search.emarefa.net/detail/BIM-457277
American Medical Association (AMA)
Berber, Ilhami& Erkurt, Mehmet Ali& Kuku, Irfan& Kaya, Emin& Koroglu, Mustafa& Nizam, Ilknur…[et al.]. Hermansky-Pudlak Syndrome : A Case Report. Case Reports in Hematology. 2014. Vol. 2014, no. 2014, pp.1-3.
https://search.emarefa.net/detail/BIM-457277
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-457277