Article
An autopsy case of infantile-onset vanishing white matter disease related to an EIF2B2 mutation (V85E) in a hemizygous region.
International journal of clinical and experimental pathology - 1 Jan 2014
Hata Yukiko, Kinoshita Koshi, Miya Kazushi, Hirono Keiichi, Ichida Fukiko, Yoshida Koji, Nishida Naoki
Abstract excerpt
We report a rare autopsy case of early infantile-onset vanishing white matter disease, with a submicroscopic deletion of 14q24.3, which included EIF2B2 and a missense mutation of EIF2B2 (V85E) of the remaining allele. The patient was a 4-year-old boy, who was found to have suddenly died during sleep. Physical and mental development began to deteriorate after convulsions at 10 month of age, and did not recover to...
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