A 5-year-old boy who presented with progressive ataxia, neuroregression, and worsening with febrile illnesses is described. He also had myoclonic jerks and ptosis. His elder sister had died of a similar illness. Serial magnetic resonance imaging of the brain demonstrated extensive abnormality of the cerebral white matter with rarefaction and cystic degeneration, suggestive of vanishing white matter disease. The patient was found to be compound heterozygous for 2 new mutations in the gene EIF2B5, confirming the diagnosis.
van der Knaap MS, Pronk JC, Scheper GCVanishing white matter disease. Lancet Neurol. 2006;5:413-423.
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