CC BY-NC-ND 4.0 · Laryngorhinootologie 2019; 98(S 02): S323
DOI: 10.1055/s-0039-1686480

Optic atrophy and auditory synaptopathy as syndromal disease – a case report

H Reinhardt
1   HNO Klinik, Ameos Klinikum Halberstadt, Halberstadt
W Pethe
1   HNO Klinik, Ameos Klinikum Halberstadt, Halberstadt
J Langer
1   HNO Klinik, Ameos Klinikum Halberstadt, Halberstadt
› Author Affiliations

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.

Publication History

Publication Date:
23 April 2019 (online)

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