Acute neurological regression following fever as presenting sign of pontocerebellar hypoplasia type 2D ( mutation).

Pontocerebellar hypoplasia type 2D (PCH2D) is caused by mutations in the gene encoding O-phosphoseryl-tRNA:selenocysteinyl-tRNA synthase (; chromosome 4p15.2). This is a key enzyme in the biosynthesis of selenoproteins, which act in maintaining antioxidant systems.