Vanishing White Matter With Hepatomegaly and Hypertriglyceridemia Attacks. (November 2013)

• Record Type: Journal Article
• Authors: Unal, Ozlem; Ozgen, Burce; Orhan, Diclehan; Tokatli, Aysegul; Hismi, Burcu Ozturk; Dursun, Ali; Coskun, Turgay; Kalkanoglu-Sivri, H. Serap
• Is Part Of: Journal of child neurology. Volume 28:Number 11(2013)
• Page Start: 1509
• Page End: 1512
• Publication Date: 2013-11
• Subjects: vanishing white matter disease -- hepatomegaly -- hypertriglyceridemia; Nervous system -- Diseases -- Periodicals; 618.928
• DOI: 10.1177/0883073812458711
• Languages: English
• ISSNs: 0883-0738

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.