Neuro-otological abnormalities in xeroderma pigmentosum with particular reference to deafness.
The neuro-otological findings are described in 3 unrelated patients who had xeroderma pigmentosum. All had impaired hearing. Routine audiometric assessment suggested that the hearing loss was of cochlear origin; brainstem evoked potentials in 2 patients and electrocochleography in 1 support this conclusion. Two adult patients had a supranuclear ophthalmoplegia. Vestibular function was mildly deranged and visual suppression of the vestibulo-ocular reflex impaired.
D000328:Adult; D003638:Deafness / Q000209:etiology* / Q000503:physiopathology; D005260:Female; D006311:Hearing Disorders / Q000209:etiology / Q000503:physiopathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009802:Oculomotor Nerve / Q000503:physiopathology; D014722:Vestibule, Labyrinth / Q000503:physiopathology; D014983:Xeroderma Pigmentosum / Q000150:complications* / Q000503:physiopathology