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

• 1. Waardenburg PJ. A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair with congenital deafness. Am J Hum Genet 1951;3:195-253.
• 2. Dourmishev AL, Dourmishev LA, Schwartz RA, Janniger CK. Waardenburg syndrome. Int J Dermatol 1999;38:656-63.
• 3. Tosun F, Kertmen M, Yetifler S, Satar B, Özkaptan Y. Waardenburg sendromu: Klinik s›n›flama ve üç farkl› olgu sunumu. Kulak Burun Bo¤az Klinikleri 2000;2:37-40.
• 4. Read AP, Newton VE. Waardenburg syndrome. J Med Genet 1997;34:656-65.
• 5. Black FO, Pesznecker SC, Allen K, Gianna C. A vestibular phenotype for Waardenburg Syndrome? Otol Neurotol 2001;22:188-94.
• 6. Merchant SN, McKenna AM, Baldwin CT, Milunsky A, Nadol JB. Otopathology in a case of type I Waardenburg’s syndrome. Ann Otol Rhinol Laryngol 2001;110:875-82.
• 7. Newton VE, Read AP. Waardenburg Syndrome. Audiological Medicine 2003;1:77-88.
• 8. Konno P, Silm H. Waardenburg syndrome. J Eur Acad Dermatol Venereol 2001;15:330-3.
• 9. Dourmishev AL, Dourmishev LA, Schwartz RA, Janniger CK. Waardenburg syndrome. In J Dermatol 1999;38:656-63.
• 10. Thapa R, Mallick D, Ghosh A, Ghosh A. Waardenburg syndrome associated with laryngomalacia. Singapore Med J 2009;50:401-3.
• 11. Krishtul A, Galadari I. Waardenburg syndrome:case report. Int J Dermatol 2003;42:651-2.
• 12. Deka RC, Sikka K, Chaturvedy G, Singh CA, Venkat Karthikeyan C, Kumar R et al. Cochlear implantation in Waardenburg syndrome: the Indian scenario. Acta Otolaryngol 2010;6:1-4.