A case report Bernard-soulier syndrome

Abstract

A case report Bernard Soulier Syndrome (BSS) is an extremely rare, autsomal recessive syndrome with GP Ib-K-V complex deficiency secondary to defective or decreased synthesis, presenting with recurrent bleeding episodes due to ineffective hemostasis mechanism. Medical history of patients usually include ecchymosis, episodes of epistaxis, gingival-rectal-vaginal bleeding, hemorrhage associated with trauma, from the onset of birth. Diagnosis is done by exploring patients in tertiary centers with the suspicion of similar clinical manifestations of relatives. The knowledges about surgical procedures in BSS is limited due to low frequency of reported cas es. The aim of the paper was to share this rare case who was admitted with pelvic pain- mass and discuss the pre-intra and postoperative management of elective surgery in patients with thrombocyte function disorders.

Keywords

• Case report,Bernard-Soulier Syndrome,Blood Coagulation Disorders, Inherited,Endometriosis,Magnetic Resonance Imaging,Ultrasonography,Gynecologic Surgical Procedures,Treatment Outcome

Bernard-soulier sendromu: Olgu sunumu

Öz

(BSS) otozoma lressesif geçiş gösteren, GP Ib-K-V kompleksinin sentezindekiya da fonksiyonundaki bozukluktan meydana gelen hemostaz mekanizmasının gerçekleşememesi sebebiyle tekrarlayan kanama şikayetleri ile baş gösteren, oldukça nadir bir sendromdur. Hastaların anamnezlerinde genelde doğumdan itibaren morarma, tekrarlayan burun kanamaları, jinjival-rektal-vajinal kanama, travma sonrası kanama mevcuttur. Tanı genelde aile fertlerinde de benzer şikayetlerin olması şüphesiyle tersiyer merkezlerde araştırıllması ile konulabilir. Hastalar genelde vaka takdimi şeklinde sunulduğu için cerrahi girişim ile ilgili bilgiler oldukça sınırlıdır. Pelvik ağrı- kitle sebebiyle başvuran bu vakada amacımız nadir olan bu sendromu paylaşmak ve elekti/ cerrahi planlanan, trombosit fonksiyon bozukluğu olan hastalarda pre- intra ve postoperatif yönetimin nasıl olması gerektiğini tartışmaktır.

Anahtar Kelimeler

• Olgu sunumu,Bernard-Soulier sendromu,Kan pıhtılaşma bozuklukları, kalıtsal,Endometriyoz,Manyetik rezonans görüntüleme,Ultrasonografi,Jinekolojik cerrahi prosedürler,Tedavi sonucu

Kaynakça

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