Sevda YILMAZ, Hüseyin DEMİRCİ, Işılay SARI KALAN, Ramazan COŞAR

Portal Ven Anevrizması Saptanan Klinefelter Sendromu Olgusu

Klinefelter sendromu (KS), hipogonadizm ve infertilite ile karakterize, erkeklerde en yaygın görülen kromozomal bozukluktur. Olguların yaklaşık % 90'ında klasik 47,XXY karyotipi, geri kalanlarında ise ek X veya Y kromozomu, yüksek dereceli anöploidler veya X kromozomu yapısal anomalileri bulunmaktadır. Portal ven anevrizmaları çok nadirdir. Klinik pratikte modern görüntüleme tekniklerinin kullanımı ile birlikte, bildirilen vaka sayıları artmaktadır. Burada karın ağrısı, bulantı ve kusma şikayetleri ile başvuran 19 yaşındaki KS'li bir erkek hasta sunmaktayız. Yapılan incelemelerde; portal venin sol dalında 23 mm'lik, anekoik, sakküler genişleme saptanmıştır. KS'nin portal ven trombozu da dahil olmak üzere venöz tromboembolik hastalıklarla ilişkili olduğu iyi bilinmektedir; ancak portal ven anevrizması ile ilişkisi daha önce bildirilmemiştir.

Klinefelter Syndrome with Portal Vein Aneurysm: Case Report

Klinefelter syndrome (KS) is the most common chromosomal disorder in men characterized by clinical features of hypogonadism and infertility. About 90% of cases have classically 47,XXY karyotype and the remaining have additional X or Y chromosomes, high grade aneuploidies or X chromosome structural abnormalities. Portal vein aneurysms are very rare. Reported cases are increasing due to use of modern imaging techniques in clinic practise. Here we report a 19-year-old man with KS who was admitted with complaints of abdominal pain, nausea and vomiting. Further investigations revealed 23 mm anechoic, saccular expansion in the left branch of the portal vein. It is well known that KS is associated with venous thromboembolic diseases including portal venous thrombosis, but association with portal vein aneurysm has not been previously reported.

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1. Bojesen A, Juul S, Gravholt CH. Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. J Clin Endocrinol Metab 2003; 88: 622-6.
2.Brock PA, Jordan PH, Jr., Barth MH, Rose AG. Portal vein aneurysm: a rare but important vascular condition. Surgery 1997; 121: 105-8.
3.Sfyroeras GS, Antoniou GA, Drakou AA, Karathanos C, Giannoukas AD. Visceral venous aneurysms: clinical presentation, natural history and their management: a systematic review. Eur J Vasc Endovasc Surg. 2009; 38: 498-505.
4. Gallego C, Velasco M, Marcuello P, Tejedor D, De Campo L, Friera A. Congenital and acquired anomalies of the portal venous system. Radiographics. 2002; 22: 141-59
5. Barzilai R, Kleckner MS, Jr. Hemocholecyst following ruptured aneurysm of portal vein; report of a case. AMA archives of surgery 1956; 72: 725-7.
6. Laurenzi A, Ettorre GM, Lionetti R, Meniconi RL, Colasanti M, Vennarecci G. Portal vein aneurysm: What to know. Dig Liver Dis. 2015; 47: 918-23
7. Lee TP, Lu HC. Portal vein aneurysm: A case report and review of the literature. Journal of Medical Ultrasound 2009; 17: 57-62.
8. Campbell WA, Price WH. Venous thromboembolic disease in Klinefelter's syndrome. Clin Genet 1981; 19: 275-80.
9. Kasten R, Pfirrmann G, Voigtländer V. Klinefelter's syndrome associated with mixed connective tissue disease (Sharp's syndrome) and thrombophilia with postthrombotic syndrome. Journal of the German Society of Dermatology : JDDG 2005; 3: 623-6.
10. King JT Jr. Epidemiology of aneurysmal subarachnoid hemorrhage. Neuroimaging Clin N Am 1997; 7: 659-68.
11. Price WH, Clayton JF, Wilson J, Collyer S, De Mey R. Causes of death in X chromatin positive males (Klinefelter's syndrome). J Epidemiol Community Health 1985; 39: 330-6.
12. García González JP, Etreros Huerta J, Jiménez Escrig A, de Villar Sordo V. Aneurysm of the interauricular septum and Klinefelter's syndrome. Rev Esp Cardiol 1989; 42: 278-9.
13.Ishihara K, Yoshimura M, Nakao H, Kanakura Y, Kanayama Y, Matsuzawa Y. T cell abnormalities in mixed connective tissue disease complicated with Klinefelter's syndrome. Internal Medicine (Tokyo, Japan) 1994; 33: 714-7
14. Gaba RC, Hardman JD, Bobra SJ. Extrahepatic portal vein aneurysm. Radiology Case Reports 2009; 4: 291