A case report Bernard-soulier syndrome

Year 2003, Volume: 34 Issue: 2, 31 - 34, 01.03.2003

Fisun Vural Ümmü Özkaya Birol Vural Gülseren Yücesoy İzzet Yücesoy Erkan Türköz

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

Abstract

(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.

Keywords

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

References

• 1. ThompsonJD, RockWA, WiskindA. Control of Pelvic Hemorrhage: Blood Component Therapy and Hemorrhagic Shock. In : Thompson JD, Bock JA, eds. Te Linde's Operative Gynecobgy. 7th ed. Philadelphia: JB.Lippincott Company, 1992: 151-193
• Z.Lopez]A, Andrews RK, Kharghan VA, Berndt MC. Bernard- Saulier Syndrome. Blood 1998:91:4397-4418
• 3. Bernard ]. Histor}? of congenital hemorrhagic tlirombocflopathic dystrophy. Blood cells 1983; 9:179
• 4. Peace man AM, KatzAR, haville M. Bernard Soulier Syndrome complicating pregnancy: A case report.Obstet Gynecol 1989; 73: 457
• 5. Berndt MC, Gregory C, Chang BH, Zola H, Castaldi PA. Additional glycoprotein defects in Bernaid-Soulier syndrome: Confirmation of genetic basis by parental analysis. Blood 1983 ; 62: 800
• 6. Grove SS, Kromberg JGR. Bernard Soulier Syndrome in two Afrikaner families. S AfrMedJ 1985; 67: 1050
• 7. ,MantMJ: DDAVP in Bernard-Soulier Sjwdrome. ThrombRes 1988; 52: 77
• 8. CuthbetRJG, Watson HHK, Handa SI. Abbot I, Ladlam CA. DDAVP shortens the bleeding time in Bemard-Soulier S}mdrome. Thromb Res 1988; 49: 649
• 9. Namum K, Harioka T, Itoh T, Kitajima T, Uno K, Kagawa D, Sone T. Anesthetic management of a patient with Bernard Soulier S)mdrome. Masui 1993; 42: 1521
• lO.Simsek S, Admiaral LG, Modderman PW, van derSchoot CE, von dem Borne AEGK. Identification of homozygous single base pat deletion in gene coding for human platelet glycoprotein I b causing Bernard Soulier Syndrome. Thromb Haemost 1994; 72: 444.