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.

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.

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.

  • 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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