[Meningeal hemorrhage and Hermansky-Pudlak syndrome].
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.
D000417:Albinism / Q000150:complications* / Q000473:pathology; D001706:Biopsy; D001778:Blood Coagulation Disorders / Q000150:complications* / Q000175:diagnosis; D005128:Eye Diseases / Q000175:diagnosis / Q000209:etiology*; D006801:Humans; D007223:Infant; D008297:Male; D012867:Skin / Q000473:pathology; D013577:Syndrome
Hémorragie méningée et syndrome d'Hermansky-Pudlak.