Abstract

Waardenburg syndrome is an autosomal dominant inherited auditory-pigmentary syndrome. A 14-year-old male patient presented to our clinic with complaints of congenital hearing loss in his left ear and vision loss. Sensorineural hearing loss was detected in the left ear at 30 dB at 500, 1,000 and 2,000 Hz and at 35 dB at 4,000 Hz. The best-corrected visual acuity was 0.5 in the left eye and full in the right eye. Iris heterochromia was present. In the fundus examination, the right eye had a natural appearance and the left eye retina had an albinoid appearance. On physical examination, vitiligo-like hypopigmented lesion on the skin of the abdomen, poilosis, dystopia cantorum and left mild mandibular hypoplasia were detected. Relevant pediatric consultations were requested, especially abdominal examination. Systemic and genetic examination was performed. Based on the findings of congenital hearing loss in the left ear and early-age hair whitening, the patient was diagnosed with type 1 Waardenburg syndrome. Hearing and vision monitoring was recommended. The aim of this case report is to describe Waardenburg syndrome and to review the etiopathogenesis, heredity and clinical findings of the disease with a brief review of the literature.