A case of branchio-oto-renal syndrome complicated by cerebral cavernous malformation exhibiting novel mutation of the EYA1

Abstract

Branchio-oto-renal (BOR) syndrome is a condition associated with branchiogenic anomalies, deafness, and renourinary anomalies as a symptomatic triad, and abnormality of the EYA1 is considered to be a causative factor. We encountered a 1-year-and-10-month-old girl with BOR syndrome complicated by cerebral cavernous malformation (CCM) exhibiting novel mutation of the EYA1. She was diagnosed with BOR syndrome as she showed bilateral cervical fistulas, bilateral deafness, and bilateral hydronephrosis/hydroureter at birth. Her mother had preauricular pits and deafness. The child suddenly developed afebrile tonic-clonic convulsion. MRI disclosed CCM in the right parietal lobe, and gene analysis demonstrated novel heteromutation in exon 13 of EYA1. We report this case since there is no published report of BOR syndrome accompanied by EYA1 mutation and complicated by CCM.