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Audio-vestibular Findings in a Patient with Pelizaeus- Merzbacher Disease
Pradeep Yuvaraj1, Suman Narayana Swamy1, Kallahalli Chethan1
1Department of Speech Pathology and Audiology, NIMHANS, Bengaluru, Karnataka, India.
Abstract:
Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive rare disease condition in which audiological deficit is also observed. A 4-year-old male child with PMD underwent an audiological evaluation. The results suggested normal middle ear and outer hair cells functioning, with only peak I of the auditory brainstem response present until 30 dBnHL. Further, the cervical vestibular evoked myogenic potential showed delayed latencies with normal amplitudes. In this case report, we attempt to explain the audio-vestibular test results and correlate them with the pathophysiology. This is the first report on the cervical vestibular myogenic potentials in patients with PMD.
Insights
Pelizaeus-Merzbacher disease (PMD), a rare X-linked disorder, can cause hearing loss. This case study reveals abnormal auditory brainstem responses and delayed vestibular evoked potentials in a child with PMD.
Area of Science:
- Neuroscience
- Genetics
- Audiology
Background:
- Pelizaeus-Merzbacher disease (PMD) is a rare, X-linked recessive neurological disorder.
- Auditory deficits are a known, though not fully understood, feature of PMD.
Observation:
- A 4-year-old male child diagnosed with PMD underwent comprehensive audiological and vestibular testing.
- Results indicated normal outer and middle ear function but abnormal auditory brainstem response (ABR) findings.
- Cervical vestibular evoked myogenic potentials (cVEMP) demonstrated delayed latencies with preserved amplitudes.
Findings:
- The auditory brainstem response showed only Wave I present up to 30 dBnHL, suggesting significant central auditory pathway dysfunction.
- Delayed latencies in cVEMP indicate impaired vestibular nerve or brainstem pathway function in PMD.
- This is the first reported case detailing cVEMP findings in a patient with Pelizaeus-Merzbacher disease.
Implications:
- These findings highlight the utility of detailed audio-vestibular testing in characterizing the neurological impact of PMD.
- Understanding these specific deficits can aid in early diagnosis and management strategies for affected individuals.
- Further research into the pathophysiology of audio-vestibular dysfunction in PMD is warranted.
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