Age: 28yr
Sex: Male
Complaints: Progressive walking difficulty.
Case study: T2 hypointensity noted in the pons and midbrain region with mild reduction in the bulk of the vermis. Mild prominence of the cisterna magna noted. The cerebellar foliae appears mildly prominent. Long TR hyperintensities noted in the white matter regions of the corona radiata and centrum semiovale with no abnormality on the T1WI.
Images:
PERFUSION CLUT VIEW
T2WI Enlarged view of pons showing linear hypointensities.
T2WI Heavy Weighted sequence shows prominent cisterna magna.
FLAIR shows hypointense linear areas on pons.
T2WI shows hyperintense scattered and confluent areas involving corona radiata and centrum semiovale.
Conclusion : K/c/o spastic ataxia and progressive walking difficulty follow up;T2 hypointensities in the region of the midbrain and pons with reduced bulk of the vermis and prominence of the cerebellar foliae.
Reference :
- https://radiopaedia.org/articles/autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay-1
- 2.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.
- Anheim M, Fleury M, Monga B et-al. Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management. Neurogenetics. 2010;11 (1): 1-12. doi:10.1007/s10048-009-0196-y – Pubmed citation