title: Peripheral neuropathy in a child with Cree leukodystrophy.
abstract: The authors describe peripheral nerve involvement in a 12-month-old boy with Cree leukodystrophy. Nerve conduction and genetic studies were performed during investigation of his leukodystrophy. Mutation analysis of the eukaryotic initiation factor 2B5 gene detected homozygosity of the R195 mutation, confirming the diagnosis of Cree leukodystrophy. Median and posterior tibial motor nerve conduction study results were normal, but sensory responses in the median nerves were unobtainable bilaterally, in keeping with a sensory axonal neuropathy. Somatosensory-evoked potentials were absent in the upper extremities and delayed in the lower extremities, confirming sensory nerve involvement. This degree of sensory nerve involvement has not been previously reported in patients with eukaryotic initiation factor 2B5-related disorders. Peripheral neuropathy should be looked for both clinically and with electrodiagnostic studies in patients with eukaryotic initiation factor 2B-related disorders.
authors.affiliation: Division of Pediatric Neurology, University of Saskatchewan, Saskatoon, Canada. rjhuntsman@hotmail.com
authors.forename: R J
authors.initials: RJ
authors.lastname: Huntsman
authors.forename: S
authors.initials: S
authors.lastname: Seshia
authors.forename: N
authors.initials: N
authors.lastname: Lowry
authors.forename: E G
authors.initials: EG
authors.lastname: Lemire
authors.forename: S L
authors.initials: SL
authors.lastname: Harder
mesh_terms: D001120:Arginine / Q000235:genetics; D004252:DNA Mutational Analysis; D003711:Demyelinating Diseases / Q000150:complications*; D020717:Eukaryotic Initiation Factor-2B / Q000235:genetics*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008475:Median Nerve / Q000503:physiopathology; D009431:Neural Conduction / Q000502:physiology; D019636:Neurodegenerative Diseases / Q000150:complications*; D010523:Peripheral Nervous System Diseases / Q000209:etiology* / Q000235:genetics*
chemical_list: D020717:Eukaryotic Initiation Factor-2B; D001120:Arginine