Bernard-Soulier syndrome in pregnancy with retinal detachment: a rare phenomenon

Bernard-Soulier syndrome (BSS) is a rare congenital bleeding disorder of the platelet, and it is mainly inherited as an autosomal recessive trait. It is caused by both qualitative and quantitative deficiency of the platelet membrane glycoprotein (GP) Ib-IX-V receptor complex, thereby causing abnormal platelets adhesion. We report a case of a primigravida in her 20s with history of BSS diagnosed in childhood due to family history. Her preconception period was challenging as she suffered from severe menorrhagia often requiring hospital admission, blood and platelet transfusions. At 35 weeks gestation, she developed temporal crowded retinal detachment of the left eye and had a successful left scleral buckling surgery under general anaesthesia (GA). She had a multidisciplinary team care with a successful elective GA caesarean section at 39+3 weeks gestation with peridelivery platelet transfusion and intravenous recombinant factor VIIa. Regional anaesthesia, intramuscular injections and anticoagulation were avoided.

[1]  Mark W. Johnson,et al.  Management of Retinal Diseases in Pregnant Patients , 2018, Journal of ophthalmic & vision research.

[2]  Management of Inherited Bleeding Disorders in Pregnancy , 2017, BJOG : an international journal of obstetrics and gynaecology.

[3]  M. Solh,et al.  Glanzmann’s thrombasthenia: pathogenesis, diagnosis, and current and emerging treatment options , 2015, Journal of blood medicine.

[4]  M. B. Macêdo,et al.  Primigravida with Bernard-Soulier Syndrome: a case report , 2015, BMC Research Notes.

[5]  E. Ciantar,et al.  PMM.24 The management of Bernard Soulier Syndrome in Pregnancy , 2014, Archives of Disease in Childhood: Fetal and Neonatal Edition.

[6]  Jamie Slowinski National Organization for Rare Disorders , 2014 .

[7]  Sunčica B Srećković,et al.  Bilateral retinal detachment in a case of preeclampsia. , 2011, Bosnian journal of basic medical sciences.

[8]  B. Myers,et al.  Thrombocytopenia in pregnancy , 2009 .

[9]  P. Peitsidis,et al.  Bernard Soulier syndrome in pregnancy: a systematic review , 2010, Haemophilia : the official journal of the World Federation of Hemophilia.

[10]  O. Tammela,et al.  Fetomaternal platelet immunization associated with maternal Bernard-Soulier syndrome. , 2008, American journal of perinatology.

[11]  A. Kriplani,et al.  Successful pregnancy outcome in Bernard–Soulier syndrome , 2005, The journal of obstetrics and gynaecology research.

[12]  Paul J. Harrison,et al.  The PFA-100: a potential rapid screening tool for the assessment of platelet dysfunction. , 2002, Clinical and laboratory haematology.

[13]  P. Nurden,et al.  Inherited defects of platelet function. , 2001, Reviews in clinical and experimental hematology.

[14]  C. Jacyntho,et al.  [Bernard-Soulier syndrome and pregnancy: a case report]. , 1992, Journal de gynecologie, obstetrique et biologie de la reproduction.

[15]  W. Bell,et al.  Obstetric complications in a patient with Bernard-Soulier syndrome. , 1991, American journal of obstetrics and gynecology.

[16]  A. Peaceman,et al.  BERNARD-SOULIER SYNDROME COMPLICATING PREGNANCY: A CASE REPORT , 1989, Obstetrics and gynecology.

[17]  Xiaoping Du,et al.  Glycoprotein Ib and glycoprotein IX are fully complexed in the intact platelet membrane. , 1987, Blood.