Primigravida with Bernard-Soulier Syndrome: a case report

Area of Science:

• Hematology
• Obstetrics
• Genetics

Background:

• Bernard-Soulier Syndrome is a rare autosomal recessive bleeding disorder affecting platelet function.
• Caused by genetic defects in the GPIb-V-IX complex, crucial for platelet adhesion.
• Management strategies for pregnant women with this syndrome lack established consensus due to case scarcity.

Observation:

• A 28-year-old primigravida with Bernard-Soulier Syndrome presented at 40 weeks gestation.
• She received prophylactic platelet transfusions prior to an elective cesarean section.
• Postpartum monitoring included assessment of bleeding and wound healing.

Findings:

• An elective cesarean section was successfully performed, resulting in a healthy infant.
• The mother's platelet count remained stable postpartum without significant hemorrhage.
• Surgical wound healing progressed as expected.

Implications:

• The peripartum period is critical for pregnant women with Bernard-Soulier Syndrome.
• Judicious delivery planning and prophylactic measures are essential.
• Extended postpartum vigilance is necessary to monitor for secondary hemorrhage.