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Waardenburg Syndrome Type 1 in a 1-Year-Old Male: A Comprehensive Case Study Report

Author(s): Mohammed Quader Naseer

Waardenburg syndrome, a relatively rare autosomal dominant disorder occurring in approximately 1 out of 40,000 individuals, is characterized by sensorineural deafness, skin, hair, and iris pigmentation irregularities, and various problems related to neural crest-derived tissues. This genetic condition, which constitutes over 2% of congenital deafness cases, can be caused by mutations in several genes including EDN3, EDNRB, MITF, PAX3, SNAI2, and SOX10. We present a case of a 1-year-old boy who came with the main concern of uncontrolled seizures and fever. He displayed typical features of Waardenburg syndrome, notably a distinctive white patch of hair in the center of his head along with striking blue and brown iris colors. Additionally, a white unpigmented area was observed on his right forearm. Both eyes exhibited a vivid red reflection from the back of the eye with a lack of pigmentation in the choroid. Despite having the characteristic white patch of hair, depigmented skin, and choroidal depigmentation, the young boy had normal hearing. It is noteworthy that his father had a history of premature hair graying. Medical professionals encountering a child with blue eyes and a white hair patch should promptly arrange for hearing assessment if not already conducted. Timely identification and management of hearing issues play a crucial role in the emotional and cognitive development of children affected by Waardenburg syndrome.