Audiovestibular findings in patients with deafness caused by a mitochondrial susceptibility mutation and precipitated by an inherited nuclear mutation or aminoglycosides

Arch Otolaryngol Head Neck Surg. 1996 Sep;122(9):1001-4. doi: 10.1001/archotol.1996.01890210073016.

Abstract

Objective: To characterize the audiological and vestibular changes associated with a mitochondrial DNA mutation in an Arab-Israeli family and in other families with mitochondrial predisposition to aminoglycoside-induced hearing loss.

Design: Evaluation of audiological (pure tone thresholds, speech reception thresholds, speech discrimination, tympanometry, acoustic reflex thresholds, tone decay, and auditory brain-stem evoked response recording) and vestibular (complete history, physical examination, and 2-channel electronystagmography) systems. In 5 patients, structural evaluation of the inner ear was done by magnetic resonance imaging.

Patients: Fifteen members of an Arab-Israeli family, and 1 Chinese woman with the same mitochondrial DNA mutation who experienced hearing loss after short-term exposure to streptomycin.

Results: Most of the patients had a profound hearing loss due to cochlear involvement. The hearing loss usually was not accompanied by notable peripheral vestibular dysfunction. In the patient with severe hearing loss after exposure to aminoglycoside, the vestibular function was completely normal.

Conclusions: In most of the Arab-Israeli patients with congenital deafness, the vestibular system function was normal, in contrast to the frequency of vestibular abnormality among deaf children, which was described in the literature. This may be related to genetic predisposition to aminoglycoside-induced deafness.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Aged
  • Aminoglycosides
  • Anti-Bacterial Agents / adverse effects*
  • DNA, Mitochondrial / genetics*
  • Deafness / chemically induced
  • Deafness / genetics*
  • Deafness / pathology
  • Deafness / physiopathology
  • Ear, Inner / pathology
  • Female
  • Genetic Predisposition to Disease
  • Hearing Tests*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Point Mutation*
  • Reflex, Acoustic
  • Vestibular Function Tests*

Substances

  • Aminoglycosides
  • Anti-Bacterial Agents
  • DNA, Mitochondrial