Krabbe Disease (Globoid Cell Leukodystrophy)

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

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