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Orphanet Journal of Rare Diseases

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Open Access 01-12-2016 | Research

Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature

Authors: Steven T. Merrill, Gary R. Nelson, Nicola Longo, Joshua L. Bonkowsky

Published in: Orphanet Journal of Rare Diseases | Issue 1/2016

Abstract

Background

Canavan disease is a devastating autosomal recessive leukodystrophy leading to spongiform degeneration of the white matter. There is no cure or treatment for Canavan disease, and disease progression is poorly understood.

Results

We report a new presentation of a patient found to have Canavan disease; brain magnetic resonance imaging (MRI) revealed white matter cytotoxic edema, indicative of an acute active destructive process. We performed a comprehensive review of published cases of Canavan disease reporting brain MRI findings, and found that cytotoxic brain edema is frequently reported in early Canavan disease.

Conclusions

Our results and the literature review support the notion of an acute phase in Canavan disease progression. These findings suggest that there is a window available for therapeutic intervention and support the need for early identification of patients with Canavan disease.

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Title: Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature
Authors: Steven T. Merrill
Gary R. Nelson
Nicola Longo
Joshua L. Bonkowsky
Publication date: 01-12-2016
Publisher: BioMed Central
Published in: Orphanet Journal of Rare Diseases / Issue 1/2016
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/s13023-016-0549-1

At a glance: The STEP trials

Springer Medicine

Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature

Abstract

Background

Results

Conclusions

At a glance: The STEP trials

Springer Medicine

Abstract

Background

Results

Conclusions

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