Hereditary ataxia

Case contributed by Dr Maxime St-Amant

Presentation

Ataxia and leg spasticity.

Patient Data

Age: 20
Gender: Female
MRI

There is an important atrophy of the superior vermis. Less significant bilateral superior cerebellar atrophy and slight frontal cortical brain atrophy. The rest of the exam is within normal limits.

This patient was known for a hereditary ataxia syndrome.

Case Discussion

The main differential diagnosis for this patient is :

  • chronic alcoholism : produces similar vermis (diffuse, not specifically superior) atrophy and extensive cerebellar atrophy; however, it wouldn't happen to such a young patient!
  • hereditary ataxia syndrome : vermis and cerebellar atrophy with brain atrophy
  • Salla's disease :  a rare autosomal recessive lysosomal storage disease  in which there is extensive vermis atrophy, corpus callosal thinning
  • lipofuscinoses

The differential diagnosis for hereditary cerebellar atrophy is wide and discussed in greater details here :

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Case information

rID: 18854
Case created: 25th Jul 2012
Last edited: 16th Nov 2016
Tags: ataxia, vermis
Inclusion in quiz mode: Included

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