Rare Diseases Symptoms Automatic Extraction

Hermansky-Pudlak syndrome in a pregnant patient: a case report.

[oculocutaneous albinism]

Hermansky-Pudlak syndrome (HPS), a rare autosomal-recessive disorder encompassing multiple organs, is characterized by oculocutaneous albinism, platelet storage pool deficiency resulting in bleeding diathesis, and ceroid lipofuscin deposition which can lead to pulmonary fibrosis, colitis, cardiomyopathy and renal failure. Pregnancy in a patient with HPS can produce multiple complications such as peripartum hemorrhage and difficulties with administration of anesthesia, either regional or general.We present the case of a patient with HPS also complicated by spontaneous triplet pregnancy.A multidisciplinary approach, including the involvement of obstetric, anesthesia, and hematology teams, is the ideal for an HPS patient with the potential for multiple complications in the peripartum period.

Diseases presenting "rare autosomal-recessive disorder" symptom

  • oculocutaneous albinism

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