"Vanishing white matter disease (VWM), also known as childhood ataxia with central hypomyelination (CACH), is a rare, genetic leukoencephalopathy due to EIF2B subunit mutations, typically appearing as extensive white matter involvement with cavitary changes."
"Vanishing white matter disease is caused by mutations in any of the genes EIF2B1, EIF2B2, EIF2B3, EIF2B4, or EIF2B5 (most common) that encode the five subunits of the eukaryotic translation initiation factor 2B (eIF2B); each have a different chromosomal locus 5,6. Decreased activity of eIF2B leads to a dysregulated integrated stress response, contributing to why patients episodically deteriorate under physiological stress 6."
"histology: Rosenthal fibres are present"
"Vanishing white matter disease is caused by mutations in any of the genes EIF2B1, EIF2B2, EIF2B3, EIF2B4, or EIF2B5 (most common) that encode the five subunits of the eukaryotic translation initiation factor 2B (eIF2B); each have a different chromosomal locus 5,6. Decreased activity of eIF2B leads to a dysregulated integrated stress response, contributing to why patients episodically deteriorate under physiological stress 6."
"avoiding precipitants of episodes by having vaccinations, wearing protective head gear (e.g. when cycling or playing sports), and avoiding certain medications (e.g. sevoflurane)"
"early treatment of any pyrexial illness (e.g. with antipyretics, antibiotics, etc.)"