Synonyms:
a.k.a. galactocerebroside b-galactosidase deficiency
Diagnosis:
Assay of beta galatosylcerebrosidase activity is diagnostic.
A type of leukodystrophy. A type of dysmyelination.
Pathogenesis:
Oligodendrocyte apoptosis and gliosis
Clinical features:
Clinical:
- Progressive cognitive decline, seizures, and cortical blindness.
- Peripheral weakness.
Peripheral neuropathy demyelinating pattern, up to 60% of patients, may be asymmetric,
Genetics:
Autosomal recessive
Findings on investigations:
Biochemical:
- Assay of beta galatosylcerebrosidase activity is diagnostic.
Electrophysiology/NCS:
- Peripheral neuropathy
Imaging:
- White matter and grey matter
- CT: hyperdense in basal ganglia, thalami, corona radiate, cerebellar cortex
- MRI:
- T2 : hyperintense in cortex (especially parietal lobes), splenium of corpus callosum, cortical spinal tract, posterior limb internal capsule, cerebellar white mater, optic nerves
- May be normal even with neurological symptoms.
Pathology:
Globoid cells (multinucleated, large), oligodendroglial apoptosis, gliosis