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Optic nerve and chiasm enlargement in a case of infantile Krabbe disease: quantitative comparison with 26 age-matched
Bhairav Patel1, Barjor Gimi, Behroze Vachha
1Department of Radiology, University of Texas Southwestern Medical Center at Dallas, Dallas, TX, USA.
Insights
Infantile Krabbe disease can cause optic nerve and optic chiasm hypertrophy. This rare finding showed significantly enlarged optic nerves and chiasm in a 5-month-old patient.
Area of Science:
- Ophthalmology
- Neurology
- Pediatric Neurology
Background:
- Krabbe disease is a rare, fatal lysosomal storage disorder.
- Infantile Krabbe disease typically presents in early infancy with neurological decline.
- Optic nerve and chiasm abnormalities are not commonly reported in Krabbe disease.
Observation:
- A 5-month-old boy with infantile Krabbe disease exhibited optic nerve and optic chiasm hypertrophy.
- This hypertrophy represents a rarely described clinical feature of the disease.
Findings:
- Quantitative analysis revealed significant enlargement of the prechiasmatic optic nerves and optic chiasm.
- Areas were measured and compared to age-matched controls.
- The prechiasmatic optic nerves were 132% larger, and the optic chiasm was 53% larger than normal.
Implications:
- Optic nerve and chiasm hypertrophy may be an underrecognized sign of infantile Krabbe disease.
- Early identification of such findings could aid in diagnosis.
- Further research is needed to understand the pathophysiology and clinical significance of this observation.
Abstract:
Hypertrophy of the optic nerves and optic chiasm is described in a 5-month-old boy with infantile Krabbe disease. Optic nerve and optic chiasm hypertrophy is a rarely described feature of Krabbe disease. The areas of the prechiasmatic optic nerves and optic chiasm were measured and compared with those of 26 age-matched controls. The areas of the prechiasmatic optic nerves and optic chiasm were 132% and 53% greater than normal, respectively.
