Hermansky-Pudlak Syndrome; a Case Report
نویسندگان
چکیده
PURPOSE To report a case of Hermansky-Pudlak syndrome. CASE REPORT A seven-year-old boy presented with marked generalized hypopigmentation, ocular exodeviation and nystagmus. He had history of easy bruising. Examination revealed green irides with marked transillumination, hypopigmented fundi and foveal hypoplasia. Further investigations disclosed platelet storage defect with adenosine diphosphate deficiency and abnormal aggregation compatible with Hermansky-Pudlak syndrome. The patient underwent strabismus surgery taking necessary precautions such as reserving platelet concentrates in case of a hemorrhagic event. CONCLUSION Patients with albinism should be evaluated for Hermansky-Pudlak syndrome especially before surgery to prevent life-threatening complications.
منابع مشابه
Case Report Hermansky-Pudlak Syndrome: Report of a Case and Review of the Literature
Hermansky-Pudlak syndrome is a rare autosomal recessive disorder characterized by excessive bleeding post surgery. Here we reported such a case and reviewed the clinicopathological features and our current understanding of this rare congenital disorder.
متن کاملA Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family
متن کامل
Hermansky-pudlak syndrome: report of a case and review of the literature.
Hermansky-Pudlak syndrome is a rare autosomal recessive disorder characterized by excessive bleeding post surgery. Here we reported such a case and reviewed the clinicopathological features and our current understanding of this rare congenital disorder.
متن کاملHermansky-Pudlak Syndrome: A Case Report
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 demonstrat...
متن کاملAbstract # 197: Multiple Gestation in a Patient with Hermansky-Pudlak Syndrome
197 Multiple Gestation in a Patient with Hermansky-Pudlak Syndrome Abstract Type: Case Report/Case Series Lisa A. Rhodes, M.D.; John J. Kowalczyk, B.Sc.; Bridget M. Marroquin, M.D. Strong Memorial Hospital, University of RochesterType: Case Report/Case Series Lisa A. Rhodes, M.D.; John J. Kowalczyk, B.Sc.; Bridget M. Marroquin, M.D. Strong Memorial Hospital, University of Rochester Hermansky-Pu...
متن کامل