Q: What is the preferred and differential diagnosis? show answer
Q: What associated clinical features might be present? show answer
Chorea. Family history of movement disorder.
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Marked basal ganglia and particularly caudate head atrophy is noted. Mild global supratentorial parenchymal volume loss is also evident, disproportionate for age. Mesial temporal structures maintain normal volume for age. No infratentorial atrophy.
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 haemorrhage.
Comment: Features typical of Huntington's disease.
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SPECT studies performed following Technetium HMPAO infusion show a generalised reduction in cerebral grey matter tracer uptake particularly centrally in the regions surrounding the central sulcus but sparing the pre-frontal 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 nucleus and the lentiform nuclei. There is also reduced tracer uptake centrally suggesting either white matter disease or ventriculomegaly. Hypoperfusion of the white matter or ventriculomegaly are also likely. 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.
Typical appearances of Huntington's disease, with atrophy of the caudate heads. This patient had the diagnosis established genetically.
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