Diagnosis of Menière's disease on MRI: feasibility at 1.5 Tesla.

BACKGROUND: Menière's disease (MD) is clinically characterized by the triad sensorineural hearing loss, tinnitus and/or aural fullness, and vertigo. Endolymphatic hydrops (EH) is the histopathological basis associated with MD, which can be demonstrated on magnetic resonance imaging (MRI). Currently, most studies are done on a 3-T MRI scanner and to date it is believed that EH can only be demonstrated on a 3-T magnet. We report the feasibility of demonstrating EH on a 1.5-T scanner using the standard 20-channel head and neck coil and the current standard 4-h delayed intravenous gadolinium-enhanced three-dimensional fluid-attenuated inversion recovery (3D-FLAIR) sequence. PURPOSE: To investigate whether current standard 4-h delayed intravenous gadolinium-enhanced 3D-FLAIR imaging can demonstrate endolymphatic hydrops on a 1.5-T MRI scanner. MATERIAL AND METHODS: The 3D-FLAIR sequence was taken from a 3-T MRI protocol and tested on a volunteer patient with clinically "definite" MD, after 4-h delayed intravenous contrast injection. Good image quality was obtained after reducing both the matrix and the bandwidth, with clear demonstration of EH. Subsequently, eight more patients with unilateral disease were imaged. Five patients had "definite" MD and four had "probable" MD. RESULTS: We imaged nine patients with unilateral disease and detected EH in eight of nine ears. One patient with "probable" MD did not show any abnormality, but the images were degraded by motion artifacts. CONCLUSION: At a cost of 2 min extra scanning time compared to a 3-T scanner, EH can be confidently demonstrated with the current standard 3D-FLAIR sequence on a 1.5-T magnet.

Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment.

Pathogenic variant in COCH are a known cause of DFNA9 autosomal dominant progressive hearing loss and vestibular dysfunction with adult onset. Hitherto, only dominant nonsynonymous variants and in-frame deletions with a presumed dominant negative or gain-of-function effect have been described. Here, we describe two brothers with congenital prelingual deafness and a homozygous nonsense c.292C>T(p.Arg98*) COCH variant, suggesting a loss-of-function effect. Vestibular dysfunction starting in the first decade was observed in the older patient. The heterozygous parents and sibling have normal hearing and vestibular function, except for the mother, who shows vestibular hyporeflexia and abnormal smooth pursuit tests, most likely due to concomitant disease. This is the first report of autosomal recessive inheritance of cochlea-vestibular dysfunction caused by a pathogenic variant in the COCH gene. An earlier onset of hearing impairment and vestibular dysfunction compared to the dominant hearing loss causing COCH variants is observed.

Developmental changes in short-term plasticity at the rat calyx of Held synapse.

The calyx of Held synapse of the medial nucleus of the trapezoid body functions as a relay synapse in the auditory brainstem. In vivo recordings have shown that this synapse displays low release probability and that the average size of synaptic potentials does not depend on recent history. We used a ventral approach to make in vivo extracellular recordings from the calyx of Held synapse in rats aged postnatal day 4 (P4) to P29 to study the developmental changes that allow this synapse to function as a relay. Between P4 and P8, we observed evidence for the presence of large short-term depression, which was counteracted by short-term facilitation at short intervals. Major changes occurred in the last few days before the onset of hearing for air-borne sounds, which happened at P13. The bursting pattern changed into a primary-like pattern, the amount of depression and facilitation decreased strongly, and the decay of facilitation became much faster. Whereas short-term plasticity was the most important cause of variability in the size of the synaptic potentials in immature animals, its role became minor around hearing onset and afterward. Similar developmental changes were observed during stimulation experiments both in brain slices and in vivo following cochlear ablation. Our data suggest that the strong reduction in release probability and the speedup of the decay of synaptic facilitation that happen just before hearing onset are important events in the transformation of the calyx of Held synapse into an auditory relay synapse.

Calcium action potentials in hair cells pattern auditory neuron activity before hearing onset.

We found rat central auditory neurons to fire action potentials in a precise sequence of mini-bursts before the age of hearing onset. This stereotyped pattern was initiated by hair cells in the cochlea, which trigger brief bursts of action potentials in auditory neurons each time they fire a Ca2+ spike. By generating theta-like activity, hair cells may limit the influence of synaptic depression in developing auditory circuits and promote consolidation of synapses.

Clinical presentation and the presence of hearing impairment in branchio-oculo-facial syndrome: a new mutation in the TFAP2A gene.

We report on the clinical presentation of branchio-oculo-facial (BOF) syndrome in 2 patients with mutations in the TFAP2A gene (OMIM 107580). This TFAP2A gene was recently shown to be involved in the causation of BOF syndrome. An overview of the literature on BOF syndrome is given based on clinical reports written in the period during which mutation analysis was not yet available for BOF syndrome. We also give descriptions of the mutations in the TFAP2A gene in our 2 new patients with BOF syndrome. Congenital conductive hearing impairments are described, including hearing rehabilitation and the results of ear surgery.