A modified Atkins diet is promising as a treatment for glucose transporter type 1 deficiency syndrome.

AIM: Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a metabolic encephalopathy that can be effectively treated with a ketogenic diet. The aim of this study was to consolidate the effectiveness of the modified Atkins diet (MAD) as an alternative treatment for GLUT1-DS. METHOD: Six Japanese males with GLUT1-DS were selected for treatment with the MAD. Their age at the time the MAD was instituted ranged from 7 to 16 years and the duration of treatment ranged from 1 to 42 months. All participants had early-onset epilepsy. Each participant's neuropsychological activity, seizure frequency, neurological status, and electroencephalographic (EEG) findings were compared before and after the introduction of the MAD. RESULTS: After initiation of the treatment, all individuals showed +2 to +3 urinary ketosis on a ketostick test check. Epileptic seizures and other paroxysmal events decreased markedly in all individuals. Interictal EEG showed improvement in the background activity and disappearance of epileptic discharges. Along with an increased vigilance level, improvement in motivation and cognitive function was also achieved. Non-paroxysmal permanent ataxia, spasticity, dysarthria, and dystonia were moderately improved in four individuals and slightly improved in the remaining two. Preprandial transient aggravation of neurological symptoms completely disappeared in all participants. There were no significant side effects. INTERPRETATION: For the treatment of GLUT1-DS, the MAD is less restrictive, more palatable, and easier to maintain than the conventional ketogenic diet, but its effectiveness was similar. Thus, MAD treatment is promising for individuals with GLUT1-DS and their families.

[Re-evaluation of ketogenic diet therapy for childhood refractory epilepsy].

We conducted a retrospective survey of the efficacy of ketogenic diet therapy (KD) for childhood refractory epilepsy. The subjects were 54 patients (male: 19; female: 35) undergoing KD between 1984 and 2007 in our hospital. We defined marked improvement as being seizure-free and satisfactory improvement as a reduction of the seizure frequency by more than 50%. KD was started at ages ranging from 6 months to 15 years (median:4 years), and maintained for 1 month to as long as 7 years. Twenty-nine patients (54%) discontinued KD within 1 year of its initiation. As the results, 18.5 and 35% of the patients showed marked and satisfactory improvement, respectively, at 1 year after starting KD. A greater than satisfactory improvement was achieved in 80% of those showing transitional state from West to Lennox-Gastaut syndrome (n = 5), 100% of those with epilepsy with both focal and generalized seizures (n = 3), 46% of those with severe myoclonic epilepsy in infants (n = 13), 33% of those with cryptogenic myoclonic-astatic epilepsy (n = 3), 25% of those with symptomatic localization-related epilepsy (n = 8), 20% of those with Lennox-Gastaut syndrome (n = 5), and 12% of those with symptomatic generalized epilepsy (n = 17). There were no serious side effects. Five patients discontinued KD despite their satisfactory improvement because they disliked the taste of the meals. KD therapy is worth considering for children with refractory epilepsy, but a more palatable KD menu needs to be developed for Japanese patients to maintain their long-term compliance with the therapy.

Epilepsy and pregnancy.

Since 1963, the association between antiepileptic drugs (AEDs) and congenital malformations in the offspring of women with epilepsy has received attention. A number of articles reported affirmative as well as some negative findings regarding an increased risk of congenital malformations. Although a consensus has not been regarding the presence of the specific malformation syndromes in relation to individual AEDs, such as fetal hydantoin syndrome, it is evident that women taking AEDs carry a two- to sevenfold higher risk of congenital malformations than do the general population. In most recent studies, special attention has been placed on polytherapy, including the specific AED, or AED combinations, and high AED serum concentrations, responsible for the higher risk of congenital malformations. Based on these cumulative results, therapy guidelines for women of childbearing age with epilepsy have been established.