Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature.
Orphanet J Rare Dis
; 11(1): 169, 2016 12 07.
Article
en En
| MEDLINE
| ID: mdl-27927234
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.Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Encéfalo
/
Enfermedad de Canavan
Tipo de estudio:
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
Orphanet J Rare Dis
Asunto de la revista:
MEDICINA
Año:
2016
Tipo del documento:
Article
País de afiliación:
Estados Unidos