Introduction. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome is
a rare neurodegenerative disease with instability as the main presenting
symptom. Patients with this syndrome often present with central and
peripheral vestibular signs. This slowly progressive disease usually starts
after 60 years of age and it takes 11 years to diagnose it. Case Report.
Here I present a 62-year-old woman with instability lasting for 7 years, but
deteriorating in the last two years with two episodes of falls, diplopia
when looking to the right, paresthesia in the extremities and clumsiness
with hands. Clinical examination revealed dysarthria, positive Romberg test,
left hand dysmetria, gaze evoked and downbeat nystagmus, positive head
impulse test, absent vestibulo-ocular reflex at video head impulse test, no
response to caloric stimulation, no smooth pursuit and dysmetric and
prolonged saccades at videonystagmography, positive visually enhanced
vestibulo ocular reflex test, normal head magnetic resonance imaging,
subclinical signs of polyneuropathy at electroneurography and negative
autoimmune and paraneoplastic cerebellar antibodies. Conclusion. Instability
is the first symptom in patients with cerebellar ataxia, neuropathy,
vestibular areflexia syndrome. Easy to perform, positive visually enhanced
vestibulo-ocular reflex test points to a concomitant central and peripheral
vestibular disorder. Negative autoimmune and paraneoplastic antibodies rule
out other cerebellar diseases. However, normal head magnetic resonance
imaging findings without expressed signs of peripheral sensory neuropathy
are in concordance with a slowly progressive form of this syndrome.
Central and peripheral vestibular signs simultaneously present in a patient with instability: A case report