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Waardenburg syndrome Type II.

I Singh¹, M Maharjan, D K Gautam

¹ENT Unit, B.P. Koirala Institute of Health Sciences, Dharan, Nepal. drishwarsinghmamc@yahoo.co.in

Kathmandu University Medical Journal (KUMJ)

|July 8, 2008

Summary

This report details two rare cases of Waardenburg syndrome type II, a genetic disorder affecting hearing and pigmentation. Both patients exhibited distinct features, including hearing loss and hair depigmentation, highlighting the syndrome's varied presentation.

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Area of Science:

Genetics
Ophthalmology
Audiology

Background:

Waardenburg syndrome (WS) is a rare genetic disorder characterized by variable degrees of hearing loss and pigmentation abnormalities.
WS type II specifically involves ocular and auditory system manifestations, often without the limb abnormalities seen in other types.

Observation:

Two pediatric cases of Waardenburg syndrome type II are presented.
The first case presented with profound sensorineural hearing loss, heterochromia iridum (iris color difference), and a white forelock.
The second case exhibited moderate sensorineural hearing loss and hair depigmentation.

Findings:

The findings underscore the phenotypic variability within Waardenburg syndrome type II.
The presence of key WS features like hearing impairment and pigmentary anomalies was confirmed in both reported cases.

Implications:

These cases contribute to the understanding of Waardenburg syndrome type II's clinical spectrum.
Early diagnosis and management are crucial for addressing the sensory deficits associated with WS.