title: Optic nerve enlargement in Krabbe disease: a pathophysiologic and clinical perspective.
abstract: Krabbe disease is an infantile-onset progressive leukodystrophy. The classic presentation includes excessive irritability, muscle hypertonicity, developmental delay, failure to thrive, peripheral neuropathy, seizures, and optic nerve atrophy. The authors report a rare case of optic nerve enlargement early in infantile Krabbe disease. Their case demonstrates proximal prechiasmatic enlargement of the nerves. They discuss the pathophysiological and clinical correlation of optic nerve enlargement in Krabbe disease and in other disorders. Although Krabbe disease does not feature in initial differential of optic nerve enlargement in children, its inclusion and early identification facilitate a timely diagnosis of this rapidly progressive fatal disease.
authors.affiliation: Center for Psychiatric Neuroscience, University of Mississippi Medical Center, Jackson, Mississippi 39216-4505, USA. drsyedafzal@yahoo.com
authors.forename: Syed A
authors.initials: SA
authors.lastname: Hussain
authors.forename: Holly H
authors.initials: HH
authors.lastname: Zimmerman
authors.forename: Omar A
authors.initials: OA
authors.lastname: Abdul-Rahman
authors.forename: Syed M
authors.initials: SM
authors.lastname: Hussaini
authors.forename: Colette C
authors.initials: CC
authors.lastname: Parker
authors.forename: Majid
authors.initials: M
authors.lastname: Khan
mesh_terms: D005260:Female; D006801:Humans; D007223:Infant; D007965:Leukodystrophy, Globoid Cell / Q000473:pathology* / Q000503:physiopathology*; D008279:Magnetic Resonance Imaging / Q000379:methods; D009900:Optic Nerve / Q000473:pathology*