FP969 : A RARE ASSOCIATION- WAARDENBURG SYNDROME AND RETINOBLASTOMA

Dr.harinikrishna B, H21589

We present a case of a seven month old female baby who presented with white forelock of hair,blue iris and white pupillary reflex in the right eye.Past history revealed colostomy done for Hirschsprung disease in the first week of life.These features were suggestive of Waardenburg syndrome type4.Fundus examination revealed a white dome shaped lesion inferior to the optic disc suggestive of group B retinoblastoma.A diagnosis of Waardenburg syndrome type 4 with group B retinoblastoma was made and the infant was started on chemotherapy after necessary investigations.On the last follow up, post 4 cycles of chemotherapy, the tumor was found to be regressing.

CONCLUSION- We are reporting the asscoiation of Waardenburg syndrome with retinoblastoma because it is very rare and only one case has been reported so far in history.