Document Detail


Positional ocular flutter and thickened optic nerves as sentinel signs of Krabbe disease.
MedLine Citation:
PMID:  22153408     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
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:
Michael C Brodsky; Jeffrey S Hunter
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus     Volume:  15     ISSN:  1528-3933     ISO Abbreviation:  J AAPOS     Publication Date:  2011 Dec 
Date Detail:
Created Date:  2011-12-14     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9710011     Medline TA:  J AAPOS     Country:  United States    
Other Details:
Languages:  eng     Pagination:  595-7     Citation Subset:  IM    
Copyright Information:
Copyright © 2011. Published by Mosby, Inc.
Affiliation:
Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota.
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