Osler-Weber-Rendu sendromu ile ilişkili pulmoner arteriyovenöz malformasyon

Osler-Weber-Rendu sendromu çocuklarda göreceli sık görülen; cilt, mukoza ve iç organlarda telanjiektazi ve arteriyovenöz malformasyonlarla seyreden vasküler bir displazidir. Bu yazıda akut romatizmal kardit atağı sırasında santral siyanoz, çomak parmak, yüzde, burun mukozasında telanjiektaziler ve sağ akciğerde arteriyovenöz malformasyonu saptanan ve Osler-Weber-Rendu sendromu tanısı alan dokuz yaşında bir erkek olgu sunuldu. Akut romatizmal kardit atağı geçtikten sonra olguya kalp kateterizasyonu yapılarak arteriyovenöz malformasyona “coil” embolizasyonu uygulandı. (Türk Ped Arfl 2011; 46: 264-6)

Pulmonary arteriovenous malformation associated with Osler-Weber-Rendu syndrome

Osler-Weber-Rendu syndrome is a relatively common vascular displasia of children presented with telengiectasias of skin, mucosa, and visceral organs and arteriovenous malformations. We reported a 9-year-old boy diagnosed as having Osler-Weber Rendu syndrome with his central cyanosis, clubbing, facial and nasal mucosal telengiectasias and right pulmonary arteriovenous malformation during an attack of acute rheumatic carditis. After relief of the acute rheumatic carditis attack, his arteriovenous malformation was treated with coil embolisation by cardiac catheterization. (Turk Arch Ped 2011; 46: 264-6)

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1. Plauchu H, de Chadarevian JP, Bideau A, et al. Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet 1989; 32: 291-7.
2. Shovlin CL, Guttmacher AE, Buscarini E, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 2000; 91: 66-7.
3. Sharathkumar AA, Shapiro A. Hereditary haemorrhagic telangiectasia. Haemophilia 2008; 14: 1269-80.
4. Mei-Zahav M, Letarte M, Faughnan ME, et al. Symptomatic children with hereditary hemorrhagic telangiectasia: a pediatric center experience. Arch Pediatr Adolesc Med 2006; 160: 596-601.
5. Guttmacher AE, Marchuk DA, White RI Jr. Hereditary hemorrhagic telangiectasia. N Engl J Med 1995; 333: 918-24.
6. Ingrosso M, Sabba C, Pisani A, et al. Evidence of small-bowel involvement in hereditary hemorrhagic telangiectasia: a capsule-endoscopic study. Endoscopy 2004; 36: 1074-9.
7. Vase P, Holm M, Arendrup H. Pulmonary arteriovenous fistulas in hereditary hemorrhagic telangiectasia. Acta Med Scand 1985; 218: 105-9.
8. Cottin V, Plauchu H, Bayle JY, et al. Pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia. Am J Respir Crit Care Med 2004; 169: 994-1000.
9. Maher CO, Piepgras DG, Brown RD Jr, et al. Cerebrovascular manifestations in 321 cases of hereditary hemorrhagic telangiectasia. Stroke 2001; 32: 877-82.
10. Faughnan ME, Palda VA, Garcia-Tsao G, et al. International guidelines for the diagnosis and management of hereditary hemorrhagic telangiectasia. J Med Genet 2011; 48: 73-87.