Presentation
Abnormal movements.
Patient Data
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.