DNA diagnosis and management of Hermansky-Pudlak syndrome in pregnancy

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characte rized by oculocutaneous albinism (OCA), platelet storage pool deficiency, a nd ceroid lipofuscin deposition. Sequelae including pulmonary fibrosis, col itis, and hemorrhagic diathesis can impact obstetric management. An is-year -old primigravida with OCA was diagnosed during pregnancy with Hermansky-Pu dlak syndrome by DNA analysis. Uneventful vaginal delivery occurred at term following prophylactic platelet transfusion. Women of northwestern Puerto Rican descent with OCA should be offered testing for HPS. Identification of affected individuals may permit optimal obstetric management.