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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.
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.
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