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Related Experiment Videos

Late onset globoid cell leukodystrophy.

R P Grewal1, N Petronas, N W Barton

  • 1DMNB, NIH, Bethesda, Maryland 20892.

Journal of Neurology, Neurosurgery, and Psychiatry
|November 1, 1991
PubMed
Summary
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Globoid cell leukodystrophy, a rare genetic disorder, typically presents earlier in life. This case highlights a unique patient with a significantly later onset and slower disease progression, expanding the known clinical spectrum.

Area of Science:

  • Neurology
  • Genetics
  • Metabolic Disorders

Background:

  • Globoid cell leukodystrophy (GLD), also known as Krabbe disease, is a rare lysosomal storage disorder caused by deficiency of the enzyme galactocerebrosidase.
  • It typically presents in infancy or early childhood with severe neurological impairment and rapid progression.
  • Late-onset forms are recognized but are less common and often present with slower progression.

Observation:

  • This report details a unique case of a 29-year-old male with globoid cell leukodystrophy.
  • The patient experienced symptom onset at 14 years of age, significantly later than typical presentations.
  • This represents the first enzymatically confirmed case of globoid cell leukodystrophy with symptom onset after the age of ten.

Findings:

  • The patient exhibited a notably late onset of globoid cell leukodystrophy symptoms.

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  • The disease progression in this individual was observed to be slow, contrasting with the rapid decline seen in typical infantile forms.
  • Enzymatic confirmation of galactocerebrosidase deficiency was established.

    • Implications:

    • This case expands the recognized clinical spectrum of globoid cell leukodystrophy, particularly for late-onset presentations.
    • It suggests that genetic factors or other modifiers may influence disease onset and progression in GLD.
    • Further research into the mechanisms underlying late-onset and slow-progressing GLD is warranted to improve diagnosis and management strategies.