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Sporadic optico-acoustic degeneration with peripheral neuropathy
S M Saleem1, M Behari1, G K Ahuja1
1Department of Neurology, All Institute of Medical Sciences, New Delhi - 110029, India.
Neurology India
|March 16, 2018
Summary
A 19-year-old male presented with progressive sensorineural hearing loss, optic atrophy, and sensorimotor neuropathy starting at age five. This case highlights a rare, non-familial neurological disorder affecting multiple sensory and motor systems.
Area of Science:
- Neurology
- Genetics
- Ophthalmology
Background:
- Bilateral sensorineural deafness, primary optic atrophy, and distal sensorimotor neuropathy are debilitating conditions.
- Early-onset progressive neurological disorders without family history present diagnostic challenges.
Purpose of the Study:
- To report a unique case of a 19-year-old male with a rare combination of neurological and sensory deficits.
- To contribute to the understanding of early-onset progressive neurological diseases.
Main Methods:
- Clinical case presentation.
- Detailed neurological and ophthalmological examination.
- Review of similar reported cases.
Main Results:
- The patient exhibited bilateral sensorineural deafness, primary optic atrophy, and bilateral symmetrical distal sensorimotor neuropathy.
- Symptoms began at age five and progressed over time.
- No family history of similar conditions was identified.
Conclusions:
- This case illustrates a rare, likely genetic, syndrome affecting auditory, visual, and peripheral nervous systems.
- Further research into the etiology and potential treatments for such complex neurological disorders is warranted.
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