Fact-sheet: Alexander Disease


Updated on 08/17/2020 at 3:29 PM

Note : 0/10
Share

View all RADEOS cases associated with this fact-sheet

Definition

Dysmyelinating leukodystrophy.
The involvement is predominantly subcortical.
Demyelination begins in the frontal regions and progresses posteriorly toward the temporal and parietal regions with involvement of the U-fibers.

Clinical features

In children, during prepuberty and puberty:

  • Psychomotor delay and spastic quadriplegia.
  • Progressive megalencephaly.

In adults:

  • Progressive extrapyramidal syndrome with bulbar involvement and optic atrophy.

CT

  • Hypodensity of the white matter.

MRI

Subcortical involvement.

T1: hypointense white matter.
T2: white matter hyperintensity in the frontal region extending to the parietal and temporal regions, then to the external capsules with involvement of the subcortical U-fibers.
Gadolinium injection: possible enhancement.

Management

  • Multidisciplinary management