Title : A case of waardenburg syndrome type 1 without deafness
Abstract:
Purpose: Waardenburg Syndrome is a congenital disease characterised by a white forelock with premature greying of the hair, broad nasal root, eyes of different colours due to heterochromia irides, bushy eye brows with synophrys, hypertelorism, depigmented dermal patches and in some cases sensorineural deafness. Waardenburg syndrome (WS) is usually of four types: WS Type 1 (OMIM 193500), WS Type 2 (OMIM 193500), WS Type 3 (OMIM 148820) and WS Type 4 (OMIM 277580). WS Type 1 and Type 2 are the most common, Type 3 is rare and Type 4 is found in about 19% of cases of Waardenburg Syndrome. The syndrome is inherited as an autosomal dominant trait due to diverse mutations in genes that code for expression of melanocytes – PAX3 gene, MITF gene, SNAI2 gene. Waardenburg disease affects about 1 in 42,000 persons. The purpose of this report is to describe a clinical presentation of the disease.
Case: A 13-year-old girl, presented to the clinic with no known underlying systemic medical condition presented to the Eye clinic with long-standing ocular pain and severe photophobia. Her current symptoms started about a week ago. Slit lamp Biomicroscopy and Opthalmogical examinations revealed Telecanthus, Heterochromia Iridis in both eyes, Depigmented choroid, mild grey hair coupled with poliosis and pseudo-convergent strabismus.
Conclusion: Waardenburg Syndrome can be identified at birth though skin changes occur over time. There are varying clinical presentations of the syndrome. It is associated with dystopia canthorum, inner ear deafness, limb and neurological abnormalities. It can cause hirschsprung’s disease which affects the colon causing bowel problems leading to frequent constipation.
