Waardenburg sendromu: Bir vaka sunumu

Giriş: İşitsel sorunlar ve cilt pigmentasyon bozuklukları ile seyreden sendromlar bir grup hastalık olup; deri, saç, göz ve kokleayı etkiler. Sıklıkla otozomal dominant kalıtım 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 tipi vardır. Olgu Sunumu: Bu makalede, Waardenburg sendromu Tip I tanısı konulan 3 yaşında bir erkek hasta sunulmuştur. Ayrıca, aile bireylerinden bazılarında da aynı hastalık tespit edilmiştir. Tartışma: Konjenital sensörinöral işitme kaybı bulunan hastalarda klinik bulguların varlığında Waardenburg sendromu da ayırıcı tanıda düşünülmelidir.

Waardenburg syndrome: A case report

Introduction: Auditory-pigmentary syndromes are a group of diseases that effect the skin, hair, eyes and the cochlea. Waardenburg syndrome is one of the members of these autosomal dominantly inherited diseases. Waardenburg syndrome is characterized by white forelock, congenital sensorineural hearing loss, hypopigmented skin and anomalies of the intraocular tissues. How ever all these diagnostic features may not be seen in all patient. In addition, there are four subtypes of the syndrome in each of which the genetic and clinical findings are different. Case Report: In this article, a-3-year old boy with Waardenburg syndrome Type 1 was 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.

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