Neuropediatrics 2006; 37 - MP113
DOI: 10.1055/s-2006-943710


RJ Huntsman 1, S Seshia 1, N Lowry 1, E Lemire 1, S Harder 1
  • 1Division of Pediatric Neurology, University of Saskatchewan, Saskatoon, Saskatchewan, Canada

Objectives: To describe peripheral nerve involvement in a 12 month old boy with Cree Leukodystrophy.

Methods: Nerve conduction studies were performed in a 12 month old boy of Cree descent during investigation of his leukodystrophy. Genetic analysis of the translation initiation factor 2B (EIF2B5) gene was performed. Results of the nerve conduction studies and genetic analysis are provided. The Medline database was searched using the terms 'Cree Leukodystrophy, Cree Leukoencephalopathy, Childhood Ataxia with Central Hypomyelination and Vanishing White Matter Disease'. The literature was reviewed looking specifically for reports of peripheral nerve involvement.

Results: Mutation analysis of the EIF2B5 gene confirmed the diagnosis of Cree Leukodystrophy. While median and posterior tibial motor nerve conduction studies were normal, sensory responses in the median nerves were unobtainable bilaterally. This was felt to be in keeping with a sensory axonal neuropathy.

Conclusion: Cree Leukodystrophy is a rapidly progressive and fatal disorder. It is related to Vanishing White Matter disease in that both diseases are caused by mutations in the gene encoding the translation initiation factor 2B (EIF2B5) located on chromosome 3q. How mutations in the gene result in a leukodystrophy is unclear. Our patient who has a genetically confirmed diagnosis of Cree Leukodystrophy also had evidence of a sensory neuropathy. To our knowledge, this is the first report of peripheral nerve involvement in any of the EIF2B5 related disorders. We feel that peripheral nerve involvement in these diseases may help determine how a mutation in the EIF2B5 gene results in this rapidly fatal disease.