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Hermansky-pudlak syndrome; a case report.
Abbas Bagheri1, Asieh Abdollahi
1Ophthalmic Research Center, Labbafinejad Medical Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Journal of Ophthalmic & Vision Research
|June 28, 2012
Summary
Hermansky-Pudlak syndrome is a rare genetic disorder causing albinism and bleeding issues. Early diagnosis and pre-surgical evaluation are crucial to prevent serious complications in affected children.
Area of Science:
- Ophthalmology
- Genetics
- Hematology
Background:
- Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and a bleeding diathesis.
- The bleeding tendency results from defects in platelet storage and function, specifically concerning dense granules.
Observation:
- A 7-year-old boy presented with generalized hypopigmentation, nystagmus, and exotropia.
- Ocular examination revealed green irides with transillumination, hypopigmented fundi, and foveal hypoplasia.
- He had a history of easy bruising, and investigations confirmed a platelet storage pool defect with adenosine diphosphate deficiency.
Findings:
- The patient's clinical presentation and laboratory findings were consistent with Hermansky-Pudlak syndrome.
- The patient successfully underwent strabismus surgery with precautions for potential hemorrhagic events, including the availability of platelet concentrates.
Implications:
- This case highlights the importance of evaluating patients with albinism for Hermansky-Pudlak syndrome.
- Preoperative assessment for bleeding disorders in such patients is critical to prevent life-threatening hemorrhagic complications during surgical procedures.
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