All issues > Volume 51(12); 2008

Case Report

Korean J Pediatr. 2008;51(12):1355-1358. Published online December 15, 2008.

Wilms` tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome: Successful treatment of the first case with bilateral Wilms` tumors in Korea

Kyung Sun KS Min¹, Hee Jo HJ Baek¹, Dong Kyun DK Han¹, Ju Hee JH You¹, Tai Ju TJ Hwang¹, Dong Deuk DD Kwon², Hoon H Kook¹

¹Departments of Pediatrics, Chonnam National University Hwasun Hospital, Chonnam National University Medical School, Gwangju, Korea
²Departments of Urology, Chonnam National University Hwasun Hospital, Chonnam National University Medical School, Gwangju, Korea

Correspondence Hoon H Kook ,Email: hoonkook@chonnam.ac.kr

Abstract

Wilms` tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome is caused by deletion of chromosome 11p13, including the Wilms` tumor (WT1) and aniridia gene (PAX6) loci. Here, we report the first case of WAGR syndrome in Korea; the patient was a 2-year-old girl with bilateral aniridia from birth who presented with abdominal distention and mental retardation. Cytogenetically, she had deletion of chromosome 11p11.2-13. Bilateral Wilms` tumors were successfully treated by chemotherapy and surgery. She has been tumor-free for 19 months off chemotherapy with preserved renal function.

Keywords :WAGR syndrome, Wilms` tumor, Aniridia