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Huntington disease

Case contributed by Frank Gaillard
Diagnosis almost certain

Presentation

History withheld.

Patient Data

Age: 30 years
Gender: Female
mri

The caudate nucleus heads are markedly atrophic resulting in enlargement of the frontal horns and increased inter-caudate distance (22 mm) and increased intercaudate distance to inner table width ratio (CC/IT) (0.23 (normal 0.09 - 0.12)). Putamen are also markedly decreased in size with increased T2 signal. Mild globus pallidus mineralization within normal limits. Otherwise cerebral volume is age appropriate. No evidence of restricted diffusion abnormality. No further abnormalities identified.

Case Discussion

These are typical and advanced features of Huntington's disease in a young patient with 3 years of symptoms. She has been tested and gene positive. 

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