Huntington's disease

Case contributed by A.Prof Frank Gaillard

Presentation

Chorea. Family history of movement disorder.

Patient Data

Age: 40 years
Gender: Male
Modality: MRI

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. 

SPECT

Modality: Nuclear medicine

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.  

Case Discussion

Typical appearances of Huntington's disease, with atrophy of the caudate heads. This patient had the diagnosis established genetically. 

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Case Information

rID: 22237
Case created: 22nd Mar 2013
Last edited: 10th Jan 2017
Inclusion in quiz mode: Included

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