SciELO - Scientific Electronic Library Online

 
vol.117 número5Betacarotenemia con afectación nasal aislada en una niña: A propósito de un casoSepsis por Lactobacillus reuteri en un recién nacido pretérmino: reporte de un caso índice de autoresíndice de assuntospesquisa de artigos
Home Pagelista alfabética de periódicos  

Serviços Personalizados

Journal

Artigo

Indicadores

  • Não possue artigos citadosCitado por SciELO

Links relacionados

  • Não possue artigos similaresSimilares em SciELO

Compartilhar


Archivos argentinos de pediatría

versão impressa ISSN 0325-0075versão On-line ISSN 1668-3501

Resumo

GALVIS-BLANCO, Silvia J; ARIAS-FLOREZ, Juan S  e  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.

Palavras-chave : WAGR syndrome; Wilms tumor; WT1 proteins; Aniridia; Urogenital abnormalities.

        · resumo em Espanhol     · texto em Espanhol     · Espanhol ( pdf )

 

Creative Commons License Todo o conteúdo deste periódico, exceto onde está identificado, está licenciado sob uma Licença Creative Commons