Salim Dogru, Ozlem Karabudak, Engin Cekin, Hakan Cincik, Atila Gungor, Ethem Poyrazoglu
CaseRepClinPractRev 2007; 8:44-47
Background: Branchio-otic (BO) syndrome is characterized by congenital preauricular fistulae, branchial fistulae (cysts), and hearing loss. Branchio-oto-renal (BOR) syndrome has a similar combination of branchial and otic anomalies associated with renal abnormalities. Both syndromes are
autosomal dominant disorders caused by mutations in EYA1 and SIX1 genes.
Case Report: We report a case of BO syndrome in a 20-year-old man. He presented with bilateral preauricular and neck fistulae. Family history disclosed only one member (sister) who had similar findings. Examination of the neck demonstrated bilateral nondraining cervical fistulas at the anterior
edge of both sternomastoid muscles. Bilateral preauricular pits located close to the superior insertion of the pinna were observed. Otologic examination revealed a cup deformity of the right auricle and normal tympanic membranes. Pure tone audiometry showed mixed hearing loss of moderate degree in the right ear and mild in the left. Speech discrimination scores were
76% in the right and 92% in the left. Stapedial reflexes were absent in the right ear. A CT scan of the temporal bones revealed no abnormality, except for an increased pneumatization on both sides. Intravenous pyelogram and ultrasonography were normal.
Conclusions: BO syndrome should be considered when addressing hearing loss and branchial cleft disorders in any patient. Early recognition of this syndrome warrants detection and treatment of any related abnormality. Relatives of BO syndrome patients should also be screened to determine
if a treatable abnormality is present.
Keywords: pre-auricular pits, pinnae deformities, Hearing Loss