Waardenburg Sendromu: Bir Vaka Sunumu

Yıl 2011, Cilt: 9 Sayı: 1, 123 - 126, 01.06.2011

Hayrullah Alp Esma Alp

Öz

Giriş: İşitsel sorunlar ve cilt pigmentasyon bozuklukları ile seyreden sendromlar birgrup hastalık olup; deri, saç, göz ve kokleayı etkiler. Sıklıkla otozomal dominantkalıtım gösteren bu hastalık grubunun bir üyesi de Waardenburg sendromudur.Waardenburg sendromu, saçta beyaz perçem, konjenital sensorinöral işitme kaybı,ciltte hipopigmente maküller ve intraoküler yapıların gelişim anomalileri ile karakterizedir. Ancak her olguda sayılan bu tanısal özelliklerin tümü görülmeyebilir.Ayrıca bu sendromun, klinik ve genetik özellikleri birbirinden farklı bilinen dört alt tipivardır. Olgu Sunumu: Bu makalede, Waardenburg sendromu Tip I tanısı konulan 3 yaşındabir erkek hasta sunulmuştur. Ayrıca, aile bireylerinden bazılarında da aynı hastalıktespit edilmiştir.Tartışma: Konjenital sensörinöral işitme kaybı bulunan hastalarda klinik bulgularınvarlığında Waardenburg sendromu da ayırıcı tanıda düşünülmelidir. Güncel Pediatri2010; 8: 123-6

Anahtar Kelimeler

Waardenburg sendromu, konjenital sensörinöral işitme kaybı, beyaz perçem, çocuk

Waardenburg Syndrome: A Case Report

Öz

Introduction: Auditory-pigmentary syndromes are a group of diseases that effect theskin, hair, eyes and the cochlea. Waardenburg syndrome is one of the members of theseautosomal dominantly inherited diseases. Waardenburg syndrome is characterizedby white forelock, congenital sensorineural hearing loss, hypopigmented skin andanomalies of the intraocular tissues. How ever all these diagnostic features may notbe seen in all patient. In addition, there are four subtypes of the syndrome in eachof which the genetic and clinical findings are different. Case Report: In this article, a-3-year old boy with Waardenburg syndrome Type 1was described. Also, in some of the family members the same disease was diagnosed. Conclusion: Waardenburg syndrome should be evaluated in the patients with congenital sensorineural hearing loss accompanied with the clinical findings

Anahtar Kelimeler

Waardenburg syndrome, congenital sensorineural hearing loss, whiteforelock, child

Kaynakça

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