Presentation
Chorea. Family history of movement disorder.
Patient Data
Marked basal ganglia atrophy, particularly of the caudate heads. Mild global supratentorial parenchymal volume loss is also evident, disproportionate for age. Mesial temporal structures maintain normal volume for age. No infratentorial atrophy.
NB: frontal horn-to-intercaudate (FH:CC) ratio and intercaudate-to-inner table (CC:IT) ratios are both abnormal.
Minor bright FLAIR signal seen in occipital white matter in a symmetrical fashion is of unclear significance. Few scattered nonspecific gliotic foci seen in centrum semiovale.
No area of diffusion restriction or intracranial hemorrhage.
Comment: Features typical of Huntington disease.
SPECT studies performed following Technetium HMPAO infusion show a generalized reduction in cerebral grey matter tracer uptake, particularly centrally in the regions surrounding the central sulcus but sparing the prefrontal and occipital lobes, as well as the left and right posterior temporal regions. There is also reduction of perfusion in the basal ganglia, particularly the heads of the caudate nuclei and the lentiform nuclei. There is also reduced tracer uptake centrally, suggesting either white matter i.e. hypoperfusion or ventriculomegaly. Cerebellar and brainstem perfusion appear normal.
OVERALL IMPRESSION: Overall impression is of diffuse reduction in cerebral parieto-frontal lobe perfusion, as well as basal ganglia perfusion, most marked at the caudate and lentiform nuclei.
Case Discussion
Typical appearances of Huntington disease, with atrophy of the caudate heads. This patient's diagnosis had been established genetically.
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