Positional ocular flutter and thickened optic nerves as sentinel signs of Krabbe disease.

[krabbe disease]

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 ½ 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 .