Abstract
Krabbe disease is an infantile-onset progressive leukodystrophy. The classic presentation includes excessive irritability, muscle hypertonicity, developmental delay, failure to thrive, peripheral neuropathy, seizures, and optic nerve atrophy. The authors report a rare case of optic nerve enlargement early in infantile Krabbe disease. Their case demonstrates proximal prechiasmatic enlargement of the nerves. They discuss the pathophysiological and clinical correlation of optic nerve enlargement in Krabbe disease and in other disorders. Although Krabbe disease does not feature in initial differential of optic nerve enlargement in children, its inclusion and early identification facilitate a timely diagnosis of this rapidly progressive fatal disease.
Original language | English (US) |
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Pages (from-to) | 642-644 |
Number of pages | 3 |
Journal | Journal of child neurology |
Volume | 26 |
Issue number | 5 |
DOIs | |
State | Published - May 2011 |
Externally published | Yes |
Keywords
- Krabbe disease
- developmental delay
- galactocerebrosidase
- leukodystrophy
- optic nerves
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Clinical Neurology