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Sensorineural hearing loss in MELAS syndrome--case report
1Department of Otorhinolarygology, Kaohsiung Medical College, Taiwan, Republic of China.
The Kaohsiung Journal of Medical Sciences
|October 22, 1998
Summary
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) can cause progressive hearing loss. This case highlights the importance of considering mitochondrial diseases in patients with sensorineural hearing loss.
Area of Science:
- Otolaryngology
- Neurology
- Genetics
Background:
- Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a mitochondrial disorder.
- A common genetic marker for MELAS is a mitochondrial tRNA mutation at nucleotide 3,243.
- Hearing loss is a recognized symptom in approximately 30% of MELAS patients, often presenting as an early clinical sign.
Observation:
- A 30-year-old female diagnosed with MELAS presented with bilateral tinnitus and progressive hearing impairment.
- Audiograms revealed bilateral symmetrical progressive sensorineural hearing loss, particularly in high frequencies, worsening over three years.
- Pure tone averages deteriorated significantly between 1993 and 1996.
Findings:
- The patient's hearing loss progressed from moderate to severe sensorineural hearing loss.
- The high-frequency SNHL observed is consistent with previously reported auditory manifestations in MELAS syndrome.
- The case underscores the audiological impact of MELAS.
Implications:
- Otolaryngologists should consider mitochondrial cytopathies, such as MELAS, in the differential diagnosis of sensorineural hearing loss.
- Early identification of hearing loss in MELAS is crucial for timely management and intervention.
- This case emphasizes the need for a multidisciplinary approach in managing patients with MELAS, integrating audiological and neurological assessments.