Huntington disease

Case contributed by Dr Pierre Wibawa

Presentation

40 year old male with obsessive-compulsive behaviour, psychosis and hyperkinetic movement.

Patient Data

Age: 40
Gender: Male
Nuclear medicine

SPECT Tc 99m–ethyl cysteinate dimer

Reduced activity of the medial frontostriatal area, particularly at caudate

MRI

Brain MRI

Bilateral caudate and putaminal atrophy. Moderate generalised brain atrophy with vermis involvement.

Case Discussion

Huntington Disease (HD) is a triple-repeat, CAG, expansion genetic disorder with motor, cognitive and behavioural manifestation. These symptoms are commonly attributed to the characteristic MRI findings of caudate, putamen and frontal-predominant cortical atrophy.  On MRI, the symptoms of apathy and executive deficits (e.g. on symbol digit modality test) seem to correlate with atrophy of basal ganglia in HD1. Measurement of caudal atrophy can be readily compared to the width of the inner-table skull or the lateral ventricular frontal horn measurement.

Several functional imaging/nuclear tracers have been used to study the basal ganglia to predict the onset of HD manifestation. These tracers include Tc 99m–ethyl cysteinate dimer, 18F-FDG PET and 11C-Raclopride2,3. These tracers may suggest reduced activity of the caudate and putamen. However, the clinical utility of these tracers, especially in the pre-manifest or early HD, is yet to be determined. Therefore, although the functional imaging in this case supports the diagnosis of HD, it is not a sole diagnostic investigation. 

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Case information

rID: 56139
Case created: 13th Oct 2017
Last edited: 13th Oct 2017
Inclusion in quiz mode: Included

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