Waardenburg syndrome: case report of a child and his family group in a Health Unity

Abstract

Objectives: The present study aims to describe the characteristics of patients with Waardenburg syndrome, explain the pathophysiology of the syndrome in question, reaffirm the importance of interprofessional care for patients and reinforce the relevance and need for genetic counseling and the study of the language of signals. Case Report: A fouryear-old male patient presented suspected Waardenburg syndrome in the maternity ward due to the phenotype of poliosis (frontal white streak), hypopigmentation on the face and bright blue irises. At nine months, the beginning of a hearing loss was noticed. The diagnosis was confirmed by clinical evaluation and the Brainstem Evoked Response Audiometry exam was instructed to confirm the hearing loss. After diagnosis, the presence of phenotypic characteristics indicative of Waardenburg syndrome was noted in six other family members - mother, maternal grandfather and brother, great-grandfather's cousin, two great-uncles. Conclusion: Early diagnosis allows adequate stimulation for hearing loss and reinforces the importance of genetic counseling and family planning, in addition to allowing the family to study sign language, aiming to improve the quality of life of patients with Waardenburg syndrome.

Keywords

• syndrome
• waardenburg syndrome
• pediatrics
• genetics