title: Vanishing White Matter With Hepatomegaly and Hypertriglyceridemia Attacks.
abstract: 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.
authors.affiliation: 1Department of Pediatrics, Hacettepe University, Division of Metabolism and Nutrition, Ankara, Turkey.
authors.forename: Ozlem
authors.initials: O
authors.lastname: Unal
authors.forename: Burce
authors.initials: B
authors.lastname: Ozgen
authors.forename: Diclehan
authors.initials: D
authors.lastname: Orhan
authors.forename: Aysegul
authors.initials: A
authors.lastname: Tokatli
authors.forename: Burcu Ozturk
authors.initials: BO
authors.lastname: Hismi
authors.forename: Ali
authors.initials: A
authors.lastname: Dursun
authors.forename: Turgay
authors.initials: T
authors.lastname: Coskun
authors.forename: H Serap
authors.initials: HS
authors.lastname: Kalkanoglu-Sivri