Waardenburg Syndrome in an 8 Year Old African Child: Case Report
V. Odogu
Department of Ophthalmology, Niger Delta University Teaching Hospital, Yenagoa, Nigeria.
I. O. Chukwuka
Department of Ophthalmology, University of Port Harcourt Teaching Hospital, Port Harcourt, Nigeria.
N. Chinawa *
Siloam Eye Foundation, Mercy Hospital, Abak, Akwa Ibom State, Nigeria.
*Author to whom correspondence should be addressed.
Abstract
Aim: Waardenburg syndrome is a very rare condition, inherited autosomally with genetic heterogeneity and characterized by deafness, hair discoloration, iris discoloration and eyelid changes.
Case Report: We report a case of an 8 year old female child with a history of a striking difference between the eyes since birth. Ocular examination revealed slightly widened medial canthal distances and hypertelorism. There was a lateral displacement of the right inner canthi [Dystopia Canthorum]. The Iris was hypopigmented and bluish in colour in the right eye, whilst the left Iris was brown and darkly pigmented.
Discussion: The diagnosis of WS is considered if there are 2 major or 1 major and 2 minor criteria according to Waardenburg consortium. Our patient had 2 major criteria viz pigmentary disturbances of the iris and dystopia canthorum. Waardenburg syndrome is sub classified into 4 types. The management of Waardenburg's syndrome, comprises early detection and referral to the appropriate unit including audiology, correction for refractive error and use of cosmetic contact lenses.
Conclusion: Waardenburg syndrome is a rare disease. In all suspected patient, hearing impairment, severe musculoskeletal contractures and Hirschsprungs disease should be ruled out.
Keywords: Waardenburg syndrome, dystopia, hypertelorism, Hirschsprungs