Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature | Orphanet Journal of Rare Diseases | Full Text

Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature | Orphanet Journal of Rare Diseases | Full Text

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

• Steven T. Merrill,
• Gary R. Nelson,
• Nicola Longo and
• Joshua L. BonkowskyEmail author

Orphanet Journal of Rare Diseases201611:169

DOI: 10.1186/s13023-016-0549-1

©  The Author(s). 2016

Received: 13 September 2016

Accepted: 29 November 2016

Published: 7 December 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.

Keywords

Leukodystrophy Canavan disease MRI Diffusion restriction Cytotoxic edema