title: Positional ocular flutter and thickened optic nerves as sentinel signs of Krabbe disease.
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.
authors.affiliation: Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, USA. brodsky.michael@mayo.edu
authors.forename: Michael C
authors.initials: MC
authors.lastname: Brodsky
authors.forename: Jeffrey S
authors.initials: JS
authors.lastname: Hunter
mesh_terms: D006801:Humans; D007223:Infant; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D008297:Male; D009897:Optic Chiasm / Q000473:pathology*; D009901:Optic Nerve Diseases / Q000175:diagnosis*