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An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
Peripheral neuropathy in a child with Cree leukodystrophy.
R J Huntsman1, S Seshia, N Lowry
1Division of Pediatric Neurology, University of Saskatchewan, Saskatoon, Canada. rjhuntsman@hotmail.com
Journal of Child Neurology
|July 21, 2007
Summary
Cree leukodystrophy can cause severe sensory neuropathy, impacting peripheral nerves. Early electrodiagnostic testing is crucial for detecting this nerve involvement in affected children.
Area of Science:
- Neuroscience
- Genetics
- Neurology
Background:
- Cree leukodystrophy is a rare genetic disorder affecting myelin development.
- Eukaryotic initiation factor 2B5 (eIF2B5) gene mutations are implicated in leukodystrophies.
- Peripheral nerve involvement is not a commonly reported feature in eIF2B-related disorders.
Observation:
- A 12-month-old boy diagnosed with Cree leukodystrophy exhibited peripheral nerve abnormalities.
- Genetic analysis confirmed homozygosity for the R195 mutation in the eIF2B5 gene.
- Clinical investigation included nerve conduction studies and somatosensory-evoked potentials.
Findings:
- Motor nerve conduction studies (median and posterior tibial) were normal.
- Bilateral sensory median nerve conduction showed unobtainable sensory responses, indicative of sensory axonal neuropathy.
- Somatosensory-evoked potentials were absent in upper extremities and delayed in lower extremities, confirming significant sensory pathway dysfunction.
Implications:
- This case highlights a previously unreported degree of sensory nerve involvement in eIF2B5-related leukodystrophy.
- Peripheral neuropathy should be considered in the clinical and electrodiagnostic workup of patients with eIF2B-related disorders.
- Early identification of neuropathy can guide management and prognosis in pediatric leukodystrophy patients.
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