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Archivos de Pediatría del Uruguay

Print version ISSN 0004-0584On-line version ISSN 1688-1249

Abstract

DELL’OCA, Nicolás et al. Branchio-oto-renal syndrome. Case study. Arch. Pediatr. Urug. [online]. 2019, vol.90, n.5, pp.283-288.  Epub Oct 01, 2019. ISSN 0004-0584.  http://dx.doi.org/10.31134/ap.90.5.5.

The branchio-oto-renal syndrome (BOR) is an uncommon autosomal dominant genetic disorder with variable expressivity, reduced penetrance and significant clinical and intra-familial heterogeneity. It is caused by alterations in the development of the ears, kidneys and second branchial arches, a structure that in developing embryos produces neck tissue. The most common clinical findings are neck fistulas or cysts, hearing loss, malformations of the outer ear with appendices and/or pre-auricular dimples and unilateral or bilateral moderate to severe renal involvement. The syndrome is mainly caused by mutations in the EYA1 gene that acts as a transcriptional regulator during embryogenesis, and which are detected in 40% of patients. We hereby introduce a representative case of BOR syndrome that showed suggestive clinical findings such as preauricular holes, branchial fistulas, severe hearing loss with anatomical anomalies of the ear, and renal impairment. In this case, we found a pathogenic variant in the EYA1 gene: c.1081C>T (p.Arg361TER). This is considered a null variant, since it causes a premature stop codon that leads to protein function loss. Given the BOR Syndrome variable expressivity, molecular diagnosis is relevant to prevent diagnostic errors, initiate familial cascade screening in order to identify affected relatives and to implement preventive measures aimed at reducing the morbidity and mortality caused by this syndrome.

Keywords : Branchio-oto-renal syndrome; Case reports.

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