A case of Waardenburg syndrome type I with congenital sensorineural hearing loss

Waardenburg syndrome is a rare genetic disorder characterized by hearing loss in association with pigmentary defects of the skin, hair and eyes. It is caused by the gene mutation involved in the development of melanocyte. A five years old, female child attended our hospital because of bilateral profound sensorineural hearing loss detected at 4 months of age. She had blue eyes, dystopia canthorum, white forelock of hair, leukoderma on the forehead and nose, broad nasal root. She was diagnosed with Waardenburg syndrome type I. Congenital hearing loss was managed by cochlear implant surgery. The audiological result was normal with activation of implant post-operatively. Her CAP score was 7 at four years after surgery. Although Waardenburg syndrome is a rare disorder, it could affects significantly to patient's development, especially congenital sensorineural hearing loss.

Automated summary

Waardenburg syndrome is a rare genetic disorder characterized by hearing loss and pigmentary defects of the skin, hair, and eyes. A five-year-old girl with bilateral profound sensorineural hearing loss was diagnosed with Waardenburg syndrome type I. Cochlear implant surgery successfully managed her congenital hearing loss, resulting in normal audiological outcomes with a CAP score of 7 four years after surgery. Despite its rarity, Waardenburg syndrome can significantly impact a patient's development, particularly in cases of congenital sensorineural hearing loss.