Optic nerve enlargement in infantile form of Krabbe disease

Area of Science:

• Neuroscience
• Genetics
• Biochemistry

Background:

• Krabbe disease (KD) is an autosomal recessive lysosomal storage disorder.
• It results from deficient galactosylceramidase activity, crucial for myelin breakdown.
• The infantile form is the most common, typically presenting around 6 months of age.

Observation:

• This report details a rare case of infantile Krabbe disease.
• Magnetic resonance imaging (MRI) revealed characteristic white matter, thalamic, and basal ganglia lesions.
• Unusually, bilateral optic nerve enlargement was also observed.

Findings:

• The patient presented with infantile Krabbe disease.
• MRI findings included typical white matter and deep gray matter lesions.
• A rare association with bilateral optic nerve enlargement was noted.

Implications:

• This case expands the spectrum of imaging findings in infantile Krabbe disease.
• Optic nerve enlargement may be an under-recognized feature in some KD cases.
• Further research is needed to understand the mechanism and clinical significance of optic nerve involvement in KD.