A Tanzanian child with WAGR syndrome: A case report

Abstract

WAGR syndrome is a rare genetic disorder characterized by a de novo deletion of 11p 13 (PAX6 and WT1 genes), clinically associated with Wilms’ tumor, aniridia, genitourinary anomalies, and mental retardation. It affects 1 in 500,000 to 1 million people worldwide. Wilms tumor occurs in half of the children with WAGR syndrome. We admitted 3-year-old boy who presented in our institution with the complaints of delay in development milestones and abdomen distension. On thorough examination he was found to have aniridia, Wilms tumor, undescended testis and mental retardation. The observation that aniridia is associated with Wilms tumor led us to believe that the findings were consistent with WAGR syndrome. The diagnosis was confirmed by a genetic testing that revealed loss of 17840kb within the 11p15.1p12 chromosome, confirming the diagnosis of WAGR syndrome.