Congenital atresia of the external ear and tinnitus: a new syndrome.

Congenital atresia of the external ears and severe tinnitus has been reported by two patients to be contralateral to the atretic ear. The use of the nuclear medicine imaging technique of single-photon emission computed tomography (SPECT) of brain has demonstrated hypoperfusion in brain areas supplied by the middle cerebral artery on the side of the atretic ear. Ultrahigh-frequency audiometry (UHFA) has revealed a bilateral loss of hearing greater than expected for the age of affected patients. Quantitative electroencephalography (QEEG) has shown a significant central nervous system electrical dysfunction correlated with the SPECT of brain findings. One case is reported in detail at this time. Completion of the medical audiological tinnitus patient protocol, including SPECT of brain, UHFA, and QEEG, accurately established the clinical tinnitus diagnosis of predominantly a central-type tinnitus, a clinical hypothesis that the medical significance of the tinnitus is a "soft" sign of cerebrovascular disease, and provided a rationale for treatment directed to a presumed ischemia of brain based on a receptor-targeted therapy targeted to the GABA-A receptor, resulting in significant tinnitus relief. Questions that have arisen include (1) the incidence of occurrence of hypoperfusion of the middle cerebral artery in congenital atresia patients; (2) implications and long-term consequences of this finding in this patient population for development of cerebrovascular disease; (3) brain plasticity for tinnitus relief (i.e., neuronal reprogramming, particularly in response to treatment recommendations for complaints of the cochleovestibular system in general and specifically for tinnitus); (4) the clinical significance of the UHFA thresholds of bilateral hearing loss greater than expected for the age of the patient; and (5) whether congenital atresia of the external ear may be part of a syndrome that includes hypoperfusion in brain areas supplied by the middle cerebral artery on the side of the atretic ear, ultra-high-frequency bilateral loss of hearing greater than expected for the age of the patient, and significant central nervous system electrical dysfunction. As far as we can determine, these findings, highlighted by the brain SPECT, have not previously been reported in patients with congenital atresia of the external ear.