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KMID : 1130320080510121355
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Korean Journal of Pediatrics
2008 Volume.51 No. 12 p.1355 ~ p.1358
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Wilms` tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome: Successful treatment of the first case with bilateral Wilms` tumors in Korea
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Min Kyung-Sun
Baek Hee-Jo
Han Dong-Kyun
You Ju-Hee
Hwang Tai-Ju
Kook Hoon
Kwon Dong-Deuk
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Abstract
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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.
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KEYWORD
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WAGR syndrome, Wilms` tumor, Aniridia
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