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Case Reports: Rare disease
Bernard-Soulier syndrome in pregnancy with retinal detachment: a rare phenomenon
  1. Nnadozie Igbokwe1,
  2. Gary Benson2 and
  3. Joyce Waireri3
  1. 1Centre for Reproductive Medicine and Surgery, St Bartholomew's Hospital, London, UK
  2. 2Haemophilia and Thrombosis Centre, Belfast City Hospital Health and Social Services Trust, Belfast, UK
  3. 3Obstetrics and gynaecology, Royal Jubilee Maternity Service, Belfast, UK
  1. Correspondence to Dr Nnadozie Igbokwe; dozzybarry4{at}gmail.com

Abstract

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.

  • Haematology (incl blood transfusion)
  • Retina
  • Pregnancy

https://doi.org/10.1136/bcr-2022-250405

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    Footnotes

    • Contributors NI got the patient’s consent, did an extensive literature review and wrote the article in accordance with BMJ policy. GB as a consultant managed the case, did the follow-up, did all the editing work and certified the final copy for publication. JW summarised the clinical case and did the initial correction.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.