Huntington disease

Case contributed by Frank Gaillard
Diagnosis certain

Presentation

Abnormal movements.

Patient Data

Age: 70 years
Gender: Female
mri

There is prominent volume loss in the basal ganglia, particularly the lentiform nuclei and caudate nuclei. This is confirmed by reduced frontal horn to intercaudate ratio (FH:CC = 1.6, normal range 2.2-2.6) and increased intercaudate to inner table ratio (CC:IT = 0.21, normal range 0.09-0.12). Otherwise, the brain volume is preserved. No inter or extra-axial mass or focal abnormality.

Conclusion: Findings compatible with a diagnosis of Huntington disease

Case Discussion

This patient has a family history of Huntington disease. She has undergone genetic testing which has confirmed the diagnosis. 

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