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DOI: 10.1055/s-0039-1686480
Optic atrophy and auditory synaptopathy as syndromal disease – a case report
Hereditary optic atrophies occur in syndromal and non-syndromal types. Syndromal forms are known to be autosomally and mitochondrially inherited. In comparison to non-syndromal types, these cases are associated with additional symptoms, amongst others progressive hearing loss.
An eleven years old boy was referred to our clinic because of rapid progressive hearing loss. Medical history includes a single sided optic atrophy and diminution of intelligence with behavioral problems. Family anamnesis in inconspicuous. We found an obvious contradiction between verifiable otoacoustic emissions and deafness in brainstem audiometry. A paracentesis on both sides, ASSR, ABR and electrocochleography in intubation anesthesia were conducted. Results of ASSR showed profound hearing impairment and electocochleography showed only Cochlear Microphonic Potentials up to 65dB. Therefore we diagnosed auditory synaptopathy. Due to this symptom constellation human genetic diagnostics were initiated. The results are not yet available. Complex syndromes often include relevant hearing disorders. Strict inspections are necessary to provide adequate hearing systems if needed. A combination of optic atrophy and auditory synaptopathy are rarely seen. Depending on further language development, a cochlear implant has to be taken into account.
Publikationsverlauf
Publikationsdatum:
23. April 2019 (online)
© 2019. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).
Georg Thieme Verlag KG
Stuttgart · New York