We studied the case of a young patient affected by a Hermansky-Pudlak syndrome: oculocutaneous albinism of variable intensity with essentially an haemorrhagic diathesis due to a "pool vide" thrombopathy. In beginning the only obvious symptom was a nystagmus and an ocular albinism. Cerebrospinal hemorrhage has up to now never been reported to our knowledge. Healthy carriers can be detected by ophthalmological examination and hematological coagulation tests. Albinos must benefit of systematical coagulation tests in order to prevent drug induced haemorrhagic accident.

Download full-text PDF

Source

Publication Analysis

Top Keywords

coagulation tests
8
[meningeal hemorrhage
4
hemorrhage hermansky-pudlak
4
hermansky-pudlak syndrome]
4
syndrome] studied
4
studied case
4
case young
4
young patient
4
patient hermansky-pudlak
4
hermansky-pudlak syndrome
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!