Journal
JOURNAL OF CHILD NEUROLOGY
Volume 28, Issue 11, Pages 1509-1512Publisher
SAGE PUBLICATIONS INC
DOI: 10.1177/0883073812458711
Keywords
vanishing white matter disease; hepatomegaly; hypertriglyceridemia
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Vanishing white matter disease is one of the most prevalent leukodystrophies in childhood. It is caused by mutations in any of the genes encoding the 5 subunits of the eukaryotic translation initiation factor 2B (eIF2B), EIF2B1 through EIF2B5. Phenotypic variation is wide and it may affect people of all ages. Here we present a child with vanishing white matter who had hepatomegaly and hypertriglyceridemia attacks along with neurologic deterioration episodes. He was found heterozygous for the 2 mutations c.817 A>C, p.Lys273Gln and c.939_948del, p.Asp314ProfsX23 in the gene EIF2B2. Until today, this association was not defined in the literature.
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