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Related Experiment Videos

Optic nerve enlargement in Krabbe's disease.

B V Jones1, T F Barron, J Towfighi

  • 1Department of Radiology, Neuroradiology, Children's Hospital Medical Center, Cincinnati, OH, USA.

AJNR. American Journal of Neuroradiology
|September 3, 1999
PubMed
Summary

Krabbe disease can cause enlarged optic nerves in children, a key finding in two reported cases. This observation suggests Krabbe disease should be considered in the diagnosis of optic nerve enlargement.

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Area of Science:

  • Neurology
  • Pediatric Neurology
  • Ophthalmology

Background:

  • Krabbe disease is a rare, severe lysosomal storage disorder.
  • It is characterized by the accumulation of galactolipids in the nervous system.
  • Optic nerve involvement is a known, but not always prominent, feature.

Observation:

  • Two pediatric cases of Krabbe disease presented with significant intracranial optic nerve enlargement.
  • Imaging studies revealed marked thickening of the optic nerves.
  • Autopsy in one case identified numerous globoid cells within the optic nerve tissue.

Findings:

  • The presence of globoid cells, characteristic of Krabbe disease, was confirmed in the optic nerves.
  • Optic nerve enlargement is a significant pathological finding in this condition.
  • This highlights a specific neuroimaging and pathological correlation.

Implications:

  • Krabbe disease should be included in the differential diagnosis for children presenting with optic nerve enlargement.
  • Early recognition can lead to timely diagnosis and intervention.
  • This finding may improve diagnostic accuracy for rare pediatric neurological disorders.

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