Diagnosis:
A type of leukodystrophy a.k.a. dysmyelination. A type of intermediate filament disease.
Genetics:
Sporadic. GFAP gene mutation. Encoding Glial fibrillary acidic protein.
Findings on investigations:
Imaging:
- Cerebral white matter lesions frontal >occipital. Brain stem atrophy
- CT: hypodense white matter diffusely. Hyperdense caudate.
- T1: hypodense white matter.
- T2: hyperintense white matter
- Enhancement early in disease with cranial nerve enhancement.
Pathology:
Subependymal, subpial and perivascular diffuse Rosenthal fibres
GFAP positive