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DOI: 10.1055/s-0043-1767463
Differential diagnosis of a bilateral vestibulopathy
Objective This case report presents a repeat disease (CANVAS syndrome) in patients with bilateral vestibulopathy and outlines the diagnostic path with interdisciplinary cooperation between ENT and neurology.
Methods We report on a patient with unclear, chronic dizziness in our ENT polyclinic at the University Hospital in Münster. In addition to the detailed anamnesis with dizziness questionnaires, a complete otoneurological diagnosis was carried out. This was followed by further neurological clarification including cMRI and testing of the nerve conduction velocity.
Results The otoneurological diagnosis showed a bilateral vestibulopathy and cerebellar ataxia. The neurological assessment showed a delayed nerve conduction speed corresponding to a polyneuropathy. A cMRI provided evidence of infratentorial brain involution in terms of cerebellar atrophy. Genetic testing of the RFC1 gene revealed a repeat mutation. Overall, the diagnosis of a CANVAS syndrome resulted from the triad of bilateral vestibulopathy, cerebellar ataxia and neuropathy with the RFC-1 mutation.
Conclusion Particularly when there is evidence of bilateral vestibulopathy, an interdisciplinary investigation should be carried out to look for evidence of ataxia and polyneuropathy. In general, this constellation of symptoms should be followed by a genetic examination. Here, a targeted search for an expansion in the RFC-1 gene must be performed using PCR, since the mutation escapes the new investigation method of next-generation sequencing.
Publication History
Article published online:
27 June 2023
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