Krabbe disease

Krabbe disease, also known as globoid cell leukodystrophy, is an autosomal recessive leukodystrophy

Can vary and depends on age of onset 5.

  • hypertonia
  • irritability
  • delayed milestones
  • loss of developed milestones
  • fever
  • myoclonus
  • opisthotonus
  • nystagmus

There are at least two recognised forms 3,5:

  • infantile form (85-90%): rapidly progressive usual onset <2 years of age
  • late onset / adult form (10-15%): more slowly progressive

The formation of globoid cells (hence the name) is characteristic of the disease. It is caused by a deficiency of galactocerebroside ß-galactosidase, an enzyme that degrades cerebroside, a normal constituent of myelin. Cerebrosides accumulate in the lysosomes of macrophages within the white matter. This results in demyelination.

Genetics 

There is deficiency of the lysosomal enzyme galactocerebrosidase (GALC) which is a component in myelin metabolic turnover. This has been mapped to chromosome 14q.

Changes typically involve the corticospinal tracts.

CT

May show hyperdense areas symmetrically involving the thalami 1 (case 1) , cerebellum, caudate nuclei, posterior limbs of the internal capsule, and brainstem. Changes may also extend into the centrum semiovale/corona radiata region 4-5.

MRI
  • T2: may show high signal involving periventricular white matter 2 centrum semiovale and deep gray matter; subcortical U-fiber may be spared until late in the course of the disease 5
  • T1 C+ (Gd): no contrast enhancement in these areas 2
  • MRS: adult form may show abnormal choline elevation in centrum semiovale 7

Often tends to be progressive and fatal 5.

It is named after Knud Haraldsen Krabbe, a Danish neurologist (1885-1961) 6.

If similar imaging appearances are seen in an adult, consider amyotrophic lateral sclerosis (ALS) when there is corticospinal tract involvement.


Inborn errors of metabolism
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Article Information

rID: 9999
Section: Pathology
Tag: cases
Synonyms or Alternate Spellings:
  • Globoid cell leukodystrophy
  • Krabbe's disease
  • GALC deficiency
  • Galactocerebrosidase deficiency
  • Galactosylceramidase deficiency

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