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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
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.
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.