Cree leukoencephalopathy (CLD)
Evidence-based neurology checklist on cree leukoencephalopathy (cld): Genetics This is a severe vanishing white matter (VWM) disease It is caused by mutations in the EIF2B5 gene Demographic features Clinical features Computed tomography (CT) head: sites of symmetrical hypoattenuation Magnetic…
Genetics
- This is a severe vanishing white matter (VWM) disease
- It is caused by mutations in the EIF2B5 gene
Demographic features
Clinical features
Computed tomography (CT) head: sites of symmetrical hypoattenuation
Magnetic resonance imaging (MRI) brain: sites of T2 hyperintensities
Magnetic resonance spectroscopy (MRS)
Differential diagnosis
Pathology
References
- Harder S, Gourgaris A, Frangou E, et al. Clinical and neuroimaging findings of Cree leukodystrophy: a retrospective case series. AJNR 2010; 31:1418-1423.
- Takano K, Tsuyusaki Y, Sato M, et al. A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy. Brain Dev 2015; 37:638-642.
- van der Knaap MS, van Berkel CG, Herms J, et al. EIF2B-related disorders: antenatal onset and involvement of multiple organs. Am J Hum Genet 2003; 73:1199-1207.
- Fogli A, Wong K, Eymard-Pierre E, et al. Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus. Ann Neurol 2002; 52:506-510.
- Huntsman RJ, Seshia S, Lowry N, Lemire EG, Harder SL. Peripheral neuropathy in a child with Cree leukodystrophy. J Child Neurol 2007; 22:766-768.
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