Dr.Ipsita Das

Dr. Pankaj Baruah , Dr.Ipsita Das

Abstract

Waardenburg syndrome is a rare genetic condition which occurs due to mutation in any of several genes that is responsible for division, migration and differentiation of neural crest cells during embryonic development, resulting in typical clinical manifestations involving various systems of body. An eight-day-old female neonate was referred from pediatric department for ophthalmic consultation. The mother complained of vomiting and distension of abdomen since last two days. On thorough examination, the neonate baby was found to have white lock of hair in the front-centre of head, pigmentary deficiencies of hairs of eye-brows, eye-lashes and facial hairs, telecanthus, depigmented skin, hypochromic iris in both eyes. Fundus examination showed diffuse choroidal depigmentation in both eyes. The parents were counselled about the ophthalmic condition and prognosis. The baby was also diagnosed to have Hirschsprung disease and atrial septal defect, from pediatric side.