Abstract
A 5-month-old boy developed a large-amplitude, horizontal pendular flutterlike oscillation of the eyes, when placed in the supine position. Magnetic resonance imaging (MRI) 1 month earlier had shown isolated thickening of the optic nerves and chiasm without other central nervous system signal abnormalities. Repeat MRI at 5 months of age showed a constellation of central nervous system signal abnormalities suggestive of Krabbe disease. The diagnosis was confirmed with serum enzymatic and genetic testing. This case demonstrates that positional ocular flutter can be a presenting sign of Krabbe disease and reinforces the observation that isolated thickening of the anterior visual pathways can antedate other central nervous system abnormalities on MRI.
Original language | English (US) |
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Pages (from-to) | 595-597 |
Number of pages | 3 |
Journal | Journal of AAPOS |
Volume | 15 |
Issue number | 6 |
DOIs | |
State | Published - Dec 2011 |
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Ophthalmology