JOURNAL OF CLINICAL AND BIOMEDICAL SCIENCES

Abstract

Introduction: Waardenburg syndrome is an autosomal dominant inherited genetic condition where abnormal melanocyte distribution during embryogenesis results in areas of patchy depigmentation. The loss of pigmentary cells in skin, eyes, hair and stria vascularis of cochlea are the cause of various clinical manifestations of this syndrome. The incidence of this syndrome globally is 1/42000 live births. Case Report: One day old male baby presented with symmetrical depigmented patches over both lower legs, white forelock, hearing loss, broad nasal bridges since birth. Baby was delivered at 37 weeks period of gestation after an uneventful pregnancy through normal vaginal delivery; history of similar complaints in the father present. No h/o consanguinity among parents. On Examination: Symmetrical solitary well defined depigmented patches of size 4x5cm present over both lower legs around knee joints. White forelock present over the frontal region of head. Broad nasal bridge with heterochromia of eyes present. Sensorineural hearing loss detected after audiometry test. Hence clinically diagnosed as Waardenburg syndrome type II. Conclusion: This is a rare case of Waardenburg syndrome satisfying criteria for type II. Knowledge of this syndrome helps in its early identification and diagnosis which in turn helps in its early management.

Keywords: Waardenburg Syndrome, White Forelock, Depigmented Patches