Hermansky-Pudlak Syndrome; a Case Report

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 f...

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Detalles Bibliográficos
Autores principales: Bagheri, Abbas, Abdollahi, Asieh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ophthalmic Research Center 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3381088/
https://www.ncbi.nlm.nih.gov/pubmed/22737372
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author Bagheri, Abbas
Abdollahi, Asieh
author_facet Bagheri, Abbas
Abdollahi, Asieh
author_sort Bagheri, Abbas
collection PubMed
description 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.
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spelling pubmed-33810882012-06-26 Hermansky-Pudlak Syndrome; a Case Report Bagheri, Abbas Abdollahi, Asieh J Ophthalmic Vis Res Case Report 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. Ophthalmic Research Center 2010-10 /pmc/articles/PMC3381088/ /pubmed/22737372 Text en http://creativecommons.org/licenses/by/2.5/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Bagheri, Abbas
Abdollahi, Asieh
Hermansky-Pudlak Syndrome; a Case Report
title Hermansky-Pudlak Syndrome; a Case Report
title_full Hermansky-Pudlak Syndrome; a Case Report
title_fullStr Hermansky-Pudlak Syndrome; a Case Report
title_full_unstemmed Hermansky-Pudlak Syndrome; a Case Report
title_short Hermansky-Pudlak Syndrome; a Case Report
title_sort hermansky-pudlak syndrome; a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3381088/
https://www.ncbi.nlm.nih.gov/pubmed/22737372
work_keys_str_mv AT bagheriabbas hermanskypudlaksyndromeacasereport
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