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BMC Psychiatry

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Open Access 01-12-2020 | Magnetic Resonance Imaging | Case report

The disappearance of white matter in an adult-onset disease: a case report

Authors: Cyrus SH Ho, Simone Mangelsdorf, Mark Walterfang

Published in: BMC Psychiatry | Issue 1/2020

Abstract

Background

Vanishing white matter disease (VWMD) is one of the most prevalent hereditary white matter diseases in childhood, but it is increasingly recognised in adulthood with high phenotypic variation and severity.

Case presentation

We report a case of an adult female presenting with emotional lability and cognitive impairment, in addition to progressive dystonia, ataxia, postural instability and recurrent falls. Magnetic resonance imaging (MRI) of the brain and genetic testing confirmed the diagnosis of VWMD.

Conclusions

VWMD has a broad clinical presentation in adulthood, and the age at onset of symptoms is one of its most important prognostic factors. It is crucial to recognize the pathognomonic MRI patterns and consider VWMD as a differential diagnosis when assessing patients presenting with psychiatric, cognitive and non-specific neurological symptoms.

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Title: The disappearance of white matter in an adult-onset disease: a case report
Authors: Cyrus SH Ho
Simone Mangelsdorf
Mark Walterfang
Publication date: 01-12-2020
Publisher: BioMed Central
Keywords: Magnetic Resonance Imaging
Magnetic Resonance Imaging
Leukodystrophy
Published in: BMC Psychiatry / Issue 1/2020
Electronic ISSN: 1471-244X
DOI: https://doi.org/10.1186/s12888-020-02551-x

Keynote webinar | Spotlight on medication adherence

Springer Medicine

The disappearance of white matter in an adult-onset disease: a case report

Abstract

Background

Case presentation

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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