Eyes Speak Before the Child Talks

Abstract

A 5-month-old boy was brought by his parents with complaints of discoloration of his left eye since birth. Examination results revealed complete heterochromia irides, a forelock of white hair, and dystopia canthorum, which are classic features of Waardenburg syndrome (Figure). Audiogram results revealed bilateral moderate sensorineural hearing loss that confirmed Waardenburg syndrome, which is a rare inherited disorder of neural crest cells due to mutations in the PAX3 gene on the long arm of chromosome 2 (2q35) that codes for melanin synthesis. 1 This syndrome accounts for 5% of congenital deafness. The disruption of melanin metabolism leads to abnormal pigmentation and hearing loss. 2,3 Ocular signs can be the first clue toward the early detection of deafness and can thus prevent consecutive speech disorders in these children.