Huntington disease

Case contributed by Dr Bruno Di Muzio

Presentation

MRI follow-up of a patient showing choreoathetosis, dementia, and emotional lability.

Patient Data

Age: 40-year-old
Gender: Female
MRI

MRI Brain

Technique: Multiplanar, multisequence images have been obtained through the brain as a neurodegenerative protocol.

Findings: Changes compatible with Huntington disease once again noted with caudate atrophy and enlargement of the frontal horns of the lateral ventricles. The degree of atrophy has mildly progressed, with increased in the caudate:inner table ratio of 0.25 and decreased frontal horn:intercaudate ratio of 1.46. The arterial spin labelling perfusion demonstrates globally reduced perfusion (not shown).

Small area of speckled susceptibility artefact superior to the frontal horn of the right lateral ventricle with a linear vessel adjacent to it may represent a tiny cavernoma with a developmental venous anomaly.

Conclusion: Progressive caudate atrophy and globally reduced perfusion.

This patient, due the progressive motor disability, had a head trauma some months later. The following CT scan was included in this case to illustrate the features in that imaging modality.  

CT

CT Brain

There is no evidence of intracranial haemorrhage or infarction. There is no intracranial collection. There is atrophy of the caudate heads in keeping with known Huntington's disease. There is enlargement of the frontal horns of the lateral ventricles. The frontal horn: intercaudate ratio is 1.35 (previously 1.47) and the intercaudate: inner table ration is 0.3 (previously 0.25) in keeping with progressive caudate atrophy since the previous MRI.

Conclusion: No intracranial haemorrhage.

Case Discussion

This patient has a known diagnosis of Huntington disease, which is an autosomal dominant neurodegenerative disease, and has been experiencing a continuous motor and cognitive deterioration. The condition affects the GABAergic neurons of the basal ganglia.

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Case information

rID: 38264
Case created: 13th Jul 2015
Last edited: 22nd Mar 2016
Tag: rmh
Inclusion in quiz mode: Included

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