Details

Autor(en) / Beteiligte

• Unal, Ozlem
• Ozgen, Burce
• Orhan, Diclehan
• Tokatli, Aysegul
• Hismi, Burcu Ozturk
• Dursun, Ali
• Coskun, Turgay
• Kalkanoglu-Sivri, H. Serap

Titel

Vanishing White Matter With Hepatomegaly and Hypertriglyceridemia Attacks

Ist Teil von

• Journal of child neurology, 2013-11, Vol.28 (11), p.1509-1512

Ort / Verlag

Los Angeles, CA: SAGE Publications

Erscheinungsjahr

2013

Quelle

Alma/SFX Local Collection

Beschreibungen/Notizen

• 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.