Waardenburg syndrome type 1 in a resource-limited setting: Early outcomes of cochlear implantation in a toddler with profound bilateral sensorineural hearing loss: A case report

Waardenburg syndrome (WS) accounts for 2–5% of congenital sensorineural hearing loss (SNHL), and type 1 (WS1) often presents with profound deafness amenable to cochlear implantation (CI). In many low-resource settings without newborn hearing screening or genetic testing, diagnosis and intervention are frequently delayed. A 22-month-old boy from non-consanguineous parents presented with speech delay, iris heterochromia and marked dystopia canthorum (intercanthal distance 48 mm), with bilateral profound SNHL (90 dB nHL) on brainstem auditory evoked responses. Temporal bone CT showed normal cochlear anatomy, and right-sided CI was performed at 24 months without complications. At 6 months post-activation, the IT-MAIS score improved from 15/40 to 35/40, with a MUSS score of 20/40 and emergence of first words.. This case illustrates that WS1 can be diagnosed clinically in the absence of genetics and that CI is feasible and beneficial in a North African public hospital despite delayed identification. Systematic examination for craniofacial and pigmentary signs in children with suspected congenital SNHL may reduce diagnostic delays and support timely referral for CI in resource-limited settings. WS1 should be actively sought in children with congenital SNHL via bedside craniofacial and pigmentation examination, especially where genetics and UNHS are unavailable. Cochlear implantation can yield meaningful early auditory and speech gains even when performed beyond 12 months in such settings.