Dr. Lakshmi K S, L16911, Dr. Sudhir Hegde, Mrs. P Devika, Dr. Rajani K, Dr. Asha Achar
Purpose – To identify the types of Waardenburg syndrome, especially type 4 or Shah Waardenburg syndrome as it has the highest mortality
Methods – A newborn baby was referred to ophthalmology department for patchy iris depigmentation by a surgeon who had diagnosed hirschsprung disease and had done emergency colostomy. On ophthalmic examination the infant had dystopia canthorum, sparse eyebrows, patchy heterochromia iridis, hypopigmented fundus, macular hypoplasia in both eyes. Infant was referred to audiology department and BERA testing confirmed deafness
Results – With 3 of 5 major criteria(dystopia canthorum, heterochromia iridis, deafness) for the diagnosis of Waardenberg Syndrome, associated with Hirschsprung’s disease- a diagnosis of type 4 Waardenberg or Shah-Waardenburg syndrome was made and was advised long term follow up and vision stimulation exercises
Conclusions – Knowledge about the syndrome is essential for the diagnosis, treatment and prevention of ccomplications arising from it