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Sensorineural hearing loss in MELAS syndrome
P D Warrick1, P Wardrop, D W Sim
1Department of Otolaryngology, Royal Infirmary, Edinburgh, UK.
The Journal of Laryngology and Otology
|March 1, 1997
Summary
Sensorineural hearing loss (SNHL) is common in MELAS syndrome, a mitochondrial cytopathy. This case study presents sequential audiograms for a patient with mitochondrial cytopathy, highlighting the otolaryngology literature gap.
Area of Science:
- Neurology
- Genetics
- Otolaryngology
Background:
- Mitochondrial cytopathies are genetic disorders affecting cellular energy production.
- Sensorineural hearing loss (SNHL) is a frequent but underreported symptom in mitochondrial cytopathies.
- MELAS syndrome (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes) is a specific type of mitochondrial cytopathy.
Observation:
- This report details a case of SNHL in a patient diagnosed with MELAS syndrome.
- The patient had two sequential audiograms performed over three years post-diagnosis.
- Mitochondrial cytopathies remain largely absent from otolaryngology literature.
Findings:
- Evidence suggests approximately 60% of mitochondrial cytopathy patients experience SNHL.
- Previous literature reviews indicate a significant lack of audiometric data in case reports.
- This case contributes sequential audiometric data, addressing a gap in the literature.
Implications:
- Increased awareness of SNHL in mitochondrial cytopathies is crucial for otolaryngologists.
- Further research and reporting of audiometric data in these patients are warranted.
- Early identification and monitoring of hearing loss can improve patient management and outcomes.