A type of leukodystrophy. A type of dysmyelination.
Synonyms:
a.k.a. spongiform degeneration a.k.a. N-acetylaspartatoacylase deficiency
Genetics:
Autosomal recessive. Gene encoding acetylaspartoacylase.
Findings on investigations:
Imaging:
- Deep grey matter, subcortical white matter, U fibres, cerebellar, brain stem. Ventriculomegaly/megalencephaly.
- CT: low density
- T2 MRI: hyperintense
- MRS magnetic resonance spectroscopy: Raised NAA
Pathology:
Vacuolation of white matter. Gliosis. Absent myelin. Preserved axons.