Presentation
Ataxia and leg spasticity.
Patient Data
Age: 20 years
Gender: Female
From the case:
Hereditary ataxia
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There is 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 hereditary ataxia syndrome.
Case Discussion
The main differential diagnoses in this case are:
- 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 vermian atrophy, corpus callosal thinning
- lipofuscinoses
Hereditary cerebellar atrophy carries a broad differential and is discussed in greater details here:
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