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Clin Neurol Neurosurg. 2016 Sep;148:17-21. doi: 10.1016/j.clineuro.2016.04.024. Epub 2016 Jun 14.

Audiological manifestations in mitochondrial encephalomyopathy lactic acidosis and stroke like episodes (MELAS) syndrome.

Author information

1
Dept. of Speech Pathology and Audiology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. Electronic address: vpvandana@gmail.com.
2
Dept. of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. Electronic address: drpsbindu@yahoo.co.in.
3
Dept. of Clinical Neurosciences, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. Electronic address: sonamkothari86@yahoo.com.
4
CSIR-Centre for Cellular and Molecular Biology (CCMB), Hyderabad, India. Electronic address: pgovinth@gmail.com.
5
Dept. of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. Electronic address: abtaly@yahoo.com.
6
Dept. of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. Electronic address: gayathrin12@rediffmail.com.
7
Dept. of Clinical Neurosciences, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
8
Dept. of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. Electronic address: drgobiraj76@yahoo.com.
9
Dept. of Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. Electronic address: aravind.radiology@gmail.com.
10
Dept. of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. Electronic address: madhu_nagappa@yahoo.co.in.
11
Dept. of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. Electronic address: sanjib_sinha2004@yahoo.co.in.
12
CSIR-Centre for Cellular and Molecular Biology (CCMB), Hyderabad, India. Electronic address: thangs@ccmb.res.in.

Abstract

OBJECTIVES:

Reports of audiological manifestations in specific subgroups of mitochondrial disorders are limited. This study aims to describe the audiological findings in patients with MELAS syndrome and m.3243A>G mutation.

PATIENTS & METHODS:

Audiological evaluation was carried out in eight patients with confirmed MELAS syndrome and m.3243A>G mutation. The evaluation included a complete neurological evaluation, pure tone audiometry (n=8), otoacoustic emissions (n=8) and brainstem evoked response audiometry (n=6), magnetic resonance imaging (n=8) and muscle biospy (n=6).

RESULTS:

Eight patients (Age range: 5-45 years; M:F-1:3) including six children and two adults underwent formal audiological evaluation. Five patients had hearing loss; of these two had "subclinical hearing loss", one had moderate and two had severe hearing loss. The abnormalities included abnormal audiometry (n=5), otoacoustic emission testing (n=7) and absent brainstem auditory evoked responses (n=1). The findings were suggestive of cochlear involvement in four and retrocochlear in one.

CONCLUSIONS:

This study shows that hearing loss of both cochlear and retrocochlear origin occurs in patients with MELAS and may be subclinical. Early referrals for audiological evaluation is warranted to recognize the subclinical hearing loss in these patients. The therapeutic implications include early interventions in the form of hearing aids, cochlear implants and cautioning the physicians for avoidance of aminoglycosides.

KEYWORDS:

Auditory neuropathy; MELAS; Sensory neural deafness; m.3243A>G

PMID:
27359089
DOI:
10.1016/j.clineuro.2016.04.024
[Indexed for MEDLINE]

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