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leukoencephalopathy with vanishing white matterA leukodystrophy of childhood onset (OMIM:603896) characterised by progressive cerebellar ataxia, spasticity, variable optic atrophy and relatively preserved mental abilities. Leukodystrophy with vanishing white matter is usually slowly progressive, but may undergo rapid deterioration after fever or minor head trauma. Clinical variants include a severe, early-onset form seen among the Cree and Chippewayan populations of Quebec and Manitoba (Cree leukoencephalopathy), and a milder form affecting females who survive to adolescence and exhibit ovarian dysfunction (ovarioleukodystrophy).
Defects in EIF2B1, which encodes a subunit of eukaryotic translation initiation factor 2B (EIF2B), an essential regulator of protein synthesis, are a cause of leukodystrophy with vanishing white matter.
Patient discussion about CLE
Q. Cn barret esophagous be cured? I was diagnosed with barretts esophagus several years ago, and so far keeps on the routine follow up. I met some other guy with same condition and he told after his doctor prescribed him with some anti-reflux meds, in the last endoscopy they found normal esophagus, and that he thinks he's now cured. Is that possible?