Hostname: page-component-848d4c4894-wg55d Total loading time: 0 Render date: 2024-05-05T23:59:23.305Z Has data issue: false hasContentIssue false
  • English
  • Français

Sensorineural hearing loss in MELAS syndrome

Published online by Cambridge University Press:  29 June 2007

P. D. Warrick ,
P. Wardrop  and
D. W. Sim
P. D. Warrick*
Affiliation:
Department of Otolaryngology, Royal Infirmary, Edinburgh, UK.
P. Wardrop
Affiliation:
Department of Otolaryngology, Royal Infirmary, Edinburgh, UK.
D. W. Sim
Affiliation:
Department of Otolaryngology, Royal Infirmary, Edinburgh, UK.
*
Address for correspondence: Dr P. Wardrop, F.R.C.S., Otolargynology Unit, Lauriston Building, Royal Infirmary, EdinburghEH3 9EN.
Get access Rights & Permissions [Opens in a new window]

Abstract

A case of sensorineural hearing loss (SNHL) in MELAS syndrome, a variety of mitochondrial cytopathy, is presented. Mitochondrial cytopathies have gone almost unreported in the otolaryngology literature, despite evidence from a recent review that about 60 per cent of such patients suffer from SNHL (Gold and Rapin, 1994). The same review revealed that only one of 117 case reports in the period 1984–1993 contained an audiogram (Swift and Singh, 1988), and none presented sequential audiograms. However, audiometry has since been published on 23 members of a family with a mitochondrial point mutation causing only sensorineural hearing loss with no other symptoms (Vernham et al., 1994). We present a case of mitochondrial cytopathy three years after diagnosis with two sequential audiograms.

Keywords

Cytopathy, mitochondrialHearing loss, sensorineural
Type
Clinical Records
Information
The Journal of Laryngology & Otology , Volume 111 , Issue 3 , March 1997 , pp. 279 - 281
Copyright
Copyright © JLO (1984) Limited 1997

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Bindoff, L. A., Jackson, S., Turnbull, D. M. (1994) Mitochondrial and lipid storage disorders of muscle. In Diseases of Voluntary Muscle. 6th edition (Walton, J., Karpati, G., Hilton-Jones, D., eds.), Churchill Livingstone, London, pp 717–740.Google Scholar
Gold, M., Rapin, I. (1994) Non-Mendelian mitochondrial inheritance as a cause of progressive genetic sensorineural hearing loss. International Journal of Pediatric Otorhinolaryngology 30: 91–104.CrossRefGoogle ScholarPubMed
Harding, A. E. (1996) Mitochondrial myopathies and encephalomyopathies. In Oxford Textbook of Medicine. 3rd Edition. vol. 3, (Weatherall, D. J., Ledingham, J. G. G., Warrell, D. A., eds.) Oxford University Press, pp 4171–4174.Google Scholar
Hartley, C., Ascott, F. (1994) Laryngeal involvement in mitochondrial myopathy. Journal of Laryngology and Otology 108: 685–687.CrossRefGoogle ScholarPubMed
Schneider, M. E., Cotanche, D. A., Fambrough, D. M., Saunders, J. C., Matschinsky, F. M. (1987) Immunocytochemical and quantitative studies of the Na+-K+-ATPase distribution in the developing chick cochlea. Hearing Research 31: 39–53.CrossRefGoogle ScholarPubMed
Swift, A. C., Singh, S. D. (1988) Hearing impairment and the Kearns-Sayre syndrome. Journal of Laryngology and Otology 102: 626–627.CrossRefGoogle ScholarPubMed
Vernham, G. A., Reid, F. M., Rundle, P. A., Jacobs, H. T. (1994) Bilateral sensorineural hearing loss in members of a maternal lineage with a mitochondrial point mutation. Clinical Otolaryngology 19: 314–319.CrossRefGoogle ScholarPubMed