Positional ocular flutter and thickened optic nerves as sentinel signs of Krabbe disease
Positional ocular flutter and thickened optic nerves as sentinel signs of Krabbe disease
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DOI：
10.1016/j.jaapos.2011.05.024
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发表时间：
2011-12-01
期刊：
影响因子：
1.6
通讯作者：
Hunter, Jeffrey S.
中科院分区：
文献类型：
--
作者：
Brodsky, Michael C.;Hunter, Jeffrey S.
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 1/2 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.
