Diagnosis:
A type of leukodystorphy. A type of dysmyelination
Findings on investigations:
Imaging:
- White matter (hemispheres, cerebellum and brainstem) and grey matter
- CT: hypodense
- T2 MRI: hyperintense white matter. Hypointense lentiform nucleus, thalamus, substantia nigra, dentate nucleus
Pathology:
Sudanophilic material in macrophages.
Reduced oligodendrocytes.
Tigroid appearance: abnormal white matter background, normal neurons.
Subtype:
- Pelizaeus-Merzbacher disease