= FIBRINOID LEUKODYSTROPHY

= rare autosomal dominant / sporadic CNS disease (<500 cases)

Cause: mutation in gene for glial fibrillary acidic protein (GFAP) of chromosome 17q21

Age: as early as first few weeks of life to 2 years

• macrocephaly; failure to attain developmental milestones
• progressive spastic quadriparesis; intellectual failure

Location: frontal white matter gradually extending posteriorly into parietal region + internal capsule

CT:

• low-density white matter lesion
• contrast enhancement near tip of frontal horn

MR:

• prolonged T1 + T2 relaxation times

Prognosis: death in infancy / childhood usually within 10 years