论文信息 - Vanishing White Matter With Hepatomegaly and Hypertriglyceridemia Attacks

Vanishing White Matter With Hepatomegaly and Hypertriglyceridemia Attacks

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.

[1] R. Schiffmann,et al. Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter , 2012 .

[2] C. Proud. Vanishing white matter: the next 10 years , 2012 .

[3] R. Shamir,et al. A Point Mutation in Translation Initiation Factor eIF2B Leads to Function- and Time-Specific Changes in Brain Gene Expression , 2011, PloS one.

[4] S. Goldman,et al. Defective Glial Maturation in Vanishing White Matter Disease , 2011, Journal of neuropathology and experimental neurology.

[5] B. Tatlı,et al. Genotype–phenotype correlation in vanishing white matter disease , 2010, Neurology.

[6] G. Scheper,et al. Leukoencephalopathy With Vanishing White Matter: A Review , 2010, Journal of neuropathology and experimental neurology.

[7] C. Proud,et al. Protein synthesis and its control in neuronal cells with a focus on vanishing white matter disease. , 2009, Biochemical Society transactions.

[8] G. Scheper,et al. Vanishing white matter disease , 2006, The Lancet Neurology.

[9] F. Gabreëls,et al. A new leukoencephalopathy with vanishing white matter , 1997, Neurology.