A Tanzanian child with WAGR syndrome: A case report

Pius David Muzzazzi 1, * and Kandi Catherine Muze 2

1 Paediatric Haematology and Oncology fellow, Muhimbili University of Health and Allied Sciences, Paediatric Department, Dar es salaam, Tanzania.
2 Paediatric Endocrinologist, Muhimbili National Hospital, Paediatric Department, Dar es salaam, Tanzania.
 
Research Article
International Journal of Science and Research Archive, 2024, 12(02), 466–469.
Article DOI: 10.30574/ijsra.2024.12.2.1235
Publication history: 
Received on 28 May 2024; revised on 05 July 2024; accepted on 08 July 2024
 
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.
 
Keywords: 
Wilms tumor; aniridia; Genital urinary anomalies; Mental retardation; Genetic disorder
 
Full text article in PDF: 
 
Copyright information: 

Copyright © 2024 Author(s) retain the copyright of this article. This article is published under the terms of the Creative Commons Attribution Liscense 4.0