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BMC Neurology
Published in: BMC Neurology 1/2019

Open Access 01-12-2019 | Wilson's Disease | Case report

18F-FDG PET/CT: an unexpected case of Huntington’s disease

Authors: Sebastian Michels, Hans-Georg Buchholz, Florian Rosar, Isabel Heinrich, Manuela A. Hoffmann, Susann Schweiger, Oliver Tüscher, Mathias Schreckenberger

Published in: BMC Neurology | Issue 1/2019

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Abstract

Background

Huntington’s disease (HD) is a rare, genetic neurodegenerative disorder often presenting with emotional, cognitive and behavioral abnormalities before manifestation of disease defining motor symptoms. Cognitive impairment is a frequent clinical feature caused by different dementia subtypes. Imaging cortical and subcortical glucose metabolism via 18F-FDG PET/CT can help to discriminate the underlying disease.

Case presentation

The patient is a 54-year old man presenting with progressive cognitive impairment and mild orofacial dyskinesia. 18F-FDG PET/CT of the brain revealed a severe bilateral hypometabolism in the striatum. Following imaging Huntington’s disease was suspected and a molecular genetic testing confirmed the diagnosis.

Conclusions

Huntington’s disease is a rare but important differential diagnosis of cognitive impairment, especially before motor symptoms are manifest. 18F-FDG PET is capable to show early striatal dysfunction in HD even when structural imaging is normal. We conclude that, in cases with negative family history the HD characteristic metabolic pattern can lead to the diagnosis when no other dementia-suspected changes are present.
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Metadata
Title
18F-FDG PET/CT: an unexpected case of Huntington’s disease
Authors
Sebastian Michels
Hans-Georg Buchholz
Florian Rosar
Isabel Heinrich
Manuela A. Hoffmann
Susann Schweiger
Oliver Tüscher
Mathias Schreckenberger
Publication date
01-12-2019
Publisher
BioMed Central
Published in
BMC Neurology / Issue 1/2019
Electronic ISSN: 1471-2377
DOI
https://doi.org/10.1186/s12883-019-1311-9

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