Vanishing White Matter With Hepatomegaly and Hypertriglyceridemia Attacks

Unal O., ÖZGEN MOCAN B., ORHAN D., TOKATLI A., Hismi B. O., DURSUN A., ...More

JOURNAL OF CHILD NEUROLOGY, vol.28, no.11, pp.1509-1512, 2013 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 28 Issue: 11
  • Publication Date: 2013
  • Doi Number: 10.1177/0883073812458711
  • Journal Name: JOURNAL OF CHILD NEUROLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1509-1512
  • Keywords: vanishing white matter disease, hepatomegaly, hypertriglyceridemia, LEUKOENCEPHALOPATHY
  • Hacettepe University Affiliated: Yes

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.