title: Isolated cranial nerve enhancement in metachromatic leukodystrophy.
abstract: Metachromatic leukodystrophy is a lysosomal storage disorder with an estimated incidence of 1:40,000. Magnetic resonance imaging at time of diagnosis often shows symmetric white matter involvement, sparing the arcuate fibers. A 25-month-old female child presented with a cranial neuropathy, a spastic gait, decreased leukocyte arylsulfatase-A activity, and elevated urinary sulfatides. Magnetic resonance imaging revealed multiple cranial nerve enhancement, without intraparenchymal white matter involvement.
authors.affiliation: Department of Neurology, Children's National Medical Center, Washington, DC 20010, USA.
authors.forename: Rani K
authors.initials: RK
authors.lastname: Singh
authors.forename: Robert T
authors.initials: RT
authors.lastname: Leshner
authors.forename: Nadja
authors.initials: N
authors.lastname: Kadom
authors.forename: Adeline L
authors.initials: AL
authors.lastname: Vanderver
mesh_terms: D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D003389:Cranial Nerve Diseases / Q000150:complications* / Q000175:diagnosis / Q000473:pathology*; D003391:Cranial Nerves / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000150:complications* / Q000175:diagnosis / Q000473:pathology*; D008279:Magnetic Resonance Imaging