Abstract

GALVIS-BLANCO, Silvia J; ARIAS-FLOREZ, Juan S  and  CONTRERAS-GARCIA, Gustavo A. WAGR syndrome by heterozygous deletion of the WT1 gene: Pediatric case report. Arch. argent. pediatr. [online]. 2019, vol.117, n.5, pp.e505-e508. ISSN 0325-0075.  http://dx.doi.org/10.5546/aap.2019.e505.

WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies and mental retardation) is an uncommon genetic disorder due to the deletion of the 11p13 region that contains the WT1 and PAX6 genes. It involves a distinctive combination of clinical conditions, with aniridia and Wilms tumor being the most notable. We present a 17-month-old infant with microcephaly, ocular alterations (buphthalmos, leukocoria, bilateral aniridia), scrotal hypoplasia, undescended testes and neurodevelopmental delay who underwent multiplex ligation-dependent probe amplification study for WT1, showing haploinsufficiency in the probes that hybridize to the 11p13 region, compatible with an heterozygous deletion of the gene. Wilms tumor was later diagnosed. WAGR syndrome is infrequent; its report in Latin America is low. It is important to disseminate its clinical characteristics, emphasizing an interdisciplinary management focused on the early identification of both the syndrome and its possible complications.

Keywords : WAGR syndrome; Wilms tumor; WT1 proteins; Aniridia; Urogenital abnormalities.

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