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Krabbe's leukodystrophy without globoid cells

H G Dunn, C L Dolman, D F Farrell

    Neurology
    |November 1, 1976
    PubMed
    Summary
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    Krabbe disease, a rare neurological disorder, can present with a prolonged infantile course. Diagnosis is confirmed by absent galactosyl ceramide beta-galactosidase, even without typical globoid cells.

    Area of Science:

    • Neurology
    • Biochemistry
    • Genetics

    Background:

    • Krabbe disease is a rare, fatal lysosomal storage disorder affecting the nervous system.
    • It is caused by a deficiency in the enzyme galactosyl ceramide beta-galactosidase.
    • This deficiency leads to the accumulation of toxic substrates, primarily galactosyl ceramide, causing demyelination.

    Observation:

    • A case of Krabbe disease with a prolonged infantile course is presented.
    • The patient exhibited progressive hypertonia, growth failure, profound mental retardation, spastic quadriplegia, optic atrophy, and depressed reflexes.
    • Nerve conduction studies showed progressive impairment of motor fiber conduction velocity.

    Findings:

    • Autopsy revealed severe leukodystrophy with demyelination and gliosis.

    Related Experiment Videos

  • Crucially, no stored breakdown products or globoid cells were found in the brain.
  • Enzyme assays confirmed a virtual absence of galactosyl ceramide beta-galactosidase activity.

    • Implications:

    • This case challenges the traditional diagnostic criteria for Krabbe disease.
    • It suggests that the presence of globoid cells may not be essential for pathological diagnosis.
    • Confirming the enzyme deficiency is paramount for diagnosing Krabbe disease, irrespective of cellular morphology.