Hermansky-Pudlak Syndrome : A Case Report

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.