title: Mitochondrial encephalomyopathy: a rare genetic cause of sensorineural hearing loss.
abstract: A 44-year-old man with a documented 12-year history of progressive sensorineural hearing loss developed a generalized tonic-clonic seizure followed by a visual field deficit and apraxia. Six months later he developed a peripheral neuropathy and muscle fatigue followed by a slowly progressive aphasia and cortical blindness as well as increased seizure activity. A computed tomography scan showed bilateral basal ganglion calcification. The serum lactate level was elevated at 3.4 mEq/dL. A muscle biopsy enabled the diagnosis of mitochondrial myopathy. This disorder is presented as an unusual cause of progressive sensorineural hearing loss in adults.
authors.affiliation: Department of Otolaryngology, St Louis University, Missouri, USA.
authors.forename: T J
authors.initials: TJ
authors.lastname: Donovan
mesh_terms: D000328:Adult; D001301:Audiometry, Pure-Tone; D001766:Blindness / Q000209:etiology; D007758:Ear, Inner / Q000503:physiopathology; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics*; D006801:Humans; D017241:MELAS Syndrome / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D008279:Magnetic Resonance Imaging; D008297:Male; D018482:Muscle, Skeletal / Q000737:chemistry; D016133:Polymerase Chain Reaction; D014815:Vitamins / Q000627:therapeutic use
chemical_list: D014815:Vitamins