Ataxia and leg spasticity.
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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.
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
The differential diagnosis for hereditary cerebellar atrophy is wide and discussed in greater details here :
- 1. De Michele G, Filla A. Other autosomal recessive and childhood ataxias. Handb Clin Neurol. 2012;103 : 343-57. doi:10.1016/B978-0-444-51892-7.00021-8 - Pubmed citation
- 2. Poretti A, Wolf NI, Boltshauser E. Differential diagnosis of cerebellar atrophy in childhood. Eur. J. Paediatr. Neurol. 2008;12 (3): 155-67. doi:10.1016/j.ejpn.2007.07.010 - Pubmed citation