Süt Çocukluğu Döneminde Tanı Alan Wıllıams-Beuren Sendromu Vakası: Erken Tanının Önemi

Yıl 2019, , 301 - 304, 30.09.2019

Fuat Buğrul , Fahrettin Duymuş

https://doi.org/10.16899/jcm.598719

Öz

Williams-Beuren sendromu (WBS) 7. kromozomun uzun kolunun 11.23 bölgesinin mikrodelesyonu sonucu oluşan 1/ 20.000 sıklığında görülen nadir bir hastalıktır. Karakteristik yüz özelliklerine zihinsel yetersizlik, konjenital kalp anomalileri ve endokrin bozukluklar eşlik edebilir. Tanı klinik ve laboratuvar bulgularıyla şüphelenilen vakalarda floresan in situ hibridizasyon (FISH) yöntemi kullanılarak delesyonun gösterilmesiyle konur. Bu yazıda, WBS tanısı alan 8 aylıkbir vakanın tipik ve atipik bulguları tanımlanmış ve erken tanının öneminin vurgulanması amaçlanmıştır.

Anahtar Kelimeler

Williams-Beuren sendromu, süt çocuğu, konjenital kalp hastalığı

The case of williams-beuren syndrome diagnosed in infancy : the importance of early diagnosis

Öz

Abstract:

Williams-Beuren syndrome (WBS) is a rare
disease with a frequency of 1/20000 caused by 
the microdeletion of 11.23 regions of the long arm of chromosome 7. The
characteristic facial features of WBS may be accompanied by the  mental deficiency, congenital heart
abnormalities and endocrine disorders. The diagnosis is made by demonstrating
the deletion using fluorescence in situ hybridization (FISH) in the cases
suspected by the clinical and the laboratory findings.  The typical and atypical findings of an
8-month-old patient diagnosed with WBS is described  in this article and our aim is to emphasize
the importance of early diagnosis of WBS .

Anahtar Kelimeler

Williams-Beuren syndrome, microdeletion syndromes, Congenital heart diseases, infancy

Kaynakça

• 1. Williams JC, Barratt-Boyes BG, Lowe JB. Supravalvular aortic stenosis. Circulation. 1961;24:1311-8.
• 2. Beuren AJ, Schulze C, Eberle P, Harmjanz D, Apitz J. The syndromeof supravalvular aortic stenosis, peripheral pulmonary stenosýs,mental retardation and similar facial appearance. Am J Cardiol 1964;13:471-483.
• 3.Committee on Genetics. American Academy of Pediatrics: Healthcare supervision for children with Williams Syndrome. Pediatr 2001;107:1192-1204.
• 4. Pober BR. Williams–Beuren Syndrome. N Engl J Med. 2010 ;362(3):239-52.
• 5. Morris CA. Introduction: Williams Syndrome. Am J Med Genet C. Semin Med Genet. 2010; 154C(2): 203–208.
• 6. Pober BR, Johnson M, Urban Z. Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome. J Clin Invest. 2008;118(5):1606-15.
• 7. Eronen M, Peippo M, Hiippala A, Raatikka M, Arvio M, Johansson R, Kähkönen M. Cardiovascular manifestations in 75 patients with Williams syndrome. J Med Genet. 2002; 39(8):554-8.
• 8. Culler FL, Jones KL, Deftos LJ. Imparied calcitonin secretion in patients with Williams syndrome. J Pediatr. 1985 Nov;107(5):720-3.
• 9. Cambiaso P, Orazi C, Digilio MC et al. Thyroid Morphology and Subclinical Hypothyroidism in Children and Adolescents with Williams Syndrome. J Pediatr. 2007;150(1):62-5.
• 10. Kim YM, Cho JH, Kang E, Lee BH, Choi JH, Yoo HW. Endocrine dysfunctions in children with Williams-Beuren syndrome. Ann Pediatr Endocrinol Metab. 2016;21(1):15-20.
• 11. Sforzini C, Milani D, Fossali E, Barbato A, Grumieri G, Bianchetti MG, Selicorni A. Renal tract ultrasonography and calcium homeostasis in Williams-Beuren syndrome. Pediatr Nephrol. 2002; 17(11):899-902.
• 12. Viana MM, Frasson M, Galvão H, Leão LL, Stofanko M, Gonçalves- Dornelas H, da Silva Cunha P. Ocular Features in 16 Brazilian Patients with Williams-Beuren Syndrome. Ophthalmic Genet. 2015;36(3):234-8.
• 13. Gothelf D, Farber N, Raveh E, Apter A, Attias J. Hyperacusis in Williams syndrome: characteristics and associated neuroaudiologic abnormalites. Neurology. 2006;14;66(3):390