DOI: 10.4103/jiaps.jiaps_404_25 ISSN: 0971-9261
Rare Case of Esophageal Squamous Cell Carcinoma in an Adolescent with Multiple Congenital Anomalies and Homozygous USH2A Mutation
Arvind Krishnamurthy, Nandhini Vighneshwar, Gurushankari Balakrishnan, Venkatraman Radhakrishnan
A
BSTRACT
A 16-year-old boy from consanguineous parents, carrying a homozygous USH2A mutation and multiple congenital anomalies, presented with distal esophageal squamous cell carcinoma – likely the first such case documented. This report underscores the value of genetic testing and multidisciplinary management, demonstrating feasible surgery-only treatment in a frail adolescent with an expanded USH2A phenotype.