Vanishing White Matter With Hepatomegaly and Hypertriglyceridemia Attacks


Unal Ö. , Ozgen B., ORHAN D., TOKATLI A., Hismi B. O. , DURSUN A., ...More

JOURNAL OF CHILD NEUROLOGY, vol.28, no.11, pp.1509-1512, 2013 (Journal Indexed in SCI) identifier 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, Scopus
  • Page Numbers: pp.1509-1512
  • Keywords: vanishing white matter disease, hepatomegaly, hypertriglyceridemia, LEUKOENCEPHALOPATHY

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.