AI Article Synopsis
- A 5-month-old boy exhibited unusual eye movements when lying down, known as horizontal pendular flutterlike oscillation.
- MRI taken a month prior showed initial signs of issues with the optic nerves but no other brain abnormalities.
- A follow-up MRI revealed more extensive brain changes linked to Krabbe disease, confirmed through genetic tests, highlighting that abnormal eye movements can indicate this condition early on.
Article 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 5½ 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.
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| http://dx.doi.org/10.1016/j.jaapos.2011.05.024 | DOI Listing |
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