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Dec 20, 2016
Finsterer J, Wakil SM
PURPOSE: Stroke-like episodes (SLEs) are a hallmark of various mitochondrial disorders, in particular MELAS syndrome. SLEs manifest with vasogenic oedema (DWI and ADC hyperintensity) or partial cytotoxic oedema (DWI hy...
Dec 20, 2016
Manoli I, Myles JG, Sloan JL, Carrillo-Carrasco N, Morava E, Strauss KA, Morton H, Venditti CP
PURPOSE: Cobalamin C (cblC) deficiency impairs the biosynthesis of 5'-deoxyadenosyl-adenosyl- and methyl-cobalamin, resulting in methylmalonic acidemia combined with hyperhomocysteinemia and hypomethioninemia. However,...
Dec 17, 2016
Spilioti M, Pavlou E, Gogou M, Katsanika I, Papadopoulou-Alataki E, Grafakou O, Gkampeta A, Dinopoulos A, Evangeliou A
INTRODUCTION: Although ketogenic diet has been proven useful in the management of intractable seizures, interactions with other medicines have been reported. This study reports two patients on co-administration with ke...
Dec 16, 2016
Klepper J, Leiendecker B, Heussinger N, Lausch E, Bosch F
High-fat ketogenic diets are the only treatment available for Glut1 deficiency (Glut1D). Here, we describe an 8-year-old girl with classical Glut1D responsive to a 3:1 ketogenic diet and ethosuximide. After 3 years on ...
Dec 16, 2016
Campagna G, Pesce M, Tatangelo R, Rizzuto A, La Fratta I, Grilli A
The aim of the paper is to show the various neurological and psychiatric symptoms in coeliac disease (CD). CD is a T cell-mediated, tissue-specific autoimmune disease which affects genetically susceptible individuals a...
Dec 15, 2016
Dec 13, 2016
Tort F, Ugarteburu O, Torres MA, García-Villoria J, Girós M, Ruiz A, Ribes A
We report the case of a 10-year-old Spanish girl with mutations in NADK2 Prenatal central nervous system abnormalities showed ventriculomegaly, colpocephaly, and hypoplasia of the corpus callosum. At birth, axial hypot...
Dec 9, 2016
Ashrafi MR, Hosseini SA, Zamani GR, Mohammadi M, Tavassoli A, Badv RS, Heidari M, Karimi P, Malamiri RA
To evaluate the efficacy, safety, and tolerability of a classic 4:1 ketogenic diet using a formula-based powder in infants and children with refractory seizures who are reluctant to eat homemade foods. We conducted an ...
Dec 9, 2016
Juozapaite S, Praninskiene R, Burnyte B, Ambrozaityte L, Skerliene B
Glucose transporter 1 deficiency syndrome (GLUT1-DS) is an inborn error of metabolism caused by impaired glucose transport through blood brain barrier due to mutation in SLC2A1 gene, encoding transporter protein. Clini...
Dec 6, 2016
van Baalen A, Vezzani A, Häusler M, Kluger G
Febrile infection-related epilepsy syndrome (FIRES, AERRPS, or DESC) is one of the most severe, mostly irreversible, and presumably immune-mediated epileptic encephalopathies affecting healthy children. Refractory stat...