Months Of Ketogenic Diet Research Articles

Пути оптимизации антропометрических параметров у детей с фармакорезистентной эпилепсией, получающих кетогенную диетотерапию

Ketogenic diet (KD) whilst being an effective method of diet therapy for drug-resistant epilepsy (DRE) is nevertheless accompanied by a significant number of side effects that include the possibility for the delayed physical development in pediatric patients. The problem is multifactorial and is primarily associated with the non-physiological nature of the ketogenic diet itself. Foreign studies on the KD effect on the physical development in children are contradictory and there are none domestic ones. The purpose of this research was to study the dynamics of anthropometric parameters in children with DRE against the background of KD and to assess the possibilities of the alimentary factor in its improvement. Materials and methods used: single-center retrospective cohort study had been carried out on the basis of the Russian Federal Research Centre for Nutrition, Biotechnology and Food Safety (Moscow, Russia) in 2016-2024. The study included patients with an established diagnosis of DRE against the background of KD aged 1 to 18 y/o. Patients were monitored for 24 months as follows: quarterly during the first year and semiannually during the second year of observation, using anthropometric, clinical-laboratory and clinical-instrumental research methods. Results: by the 3rd month of KD, out of 174 pediatric patients, the diet was effective in 105 (60%); by 12th month, 100% control over attacks was achieved in 11 (6%). Analysis of anthropometric parameters made it possible to establish that at the initial point of observation, in accordance with the z-score of the body mass index (BMI), 108 (64%) had normal nutritional status, 22 (13%) had malnutrition and 40 (24%) were overweight/obese. When studying the dynamics of weight and height indicators of children who were on KD throughout the observation period, it was found that the median BMI z-score statistically significantly changed upward (p=0.047), which was largely due to growth retardation, with a decrease in the height/age z-score throughout the observation period (p<0.001). It was found that the protein component of the diet, as well as the level of ketonemia, have a significant impact on the dynamics of the BMI z-score in KD patients. The amount of protein in the diet at 6% to 7% of the energy value contributed to the maintenance of optimal growth parameters in children within this research. Conclusion: the significance of the BMI indicator in assessing the nutritional status over KD decreases against the background of growth retardation. Taking into account the value of the protein/energy indicator when calculating nutrition helps in maintaining of the physical development rate in such patients.

Compliance and Ketones Levels in Relation to Seizure Control in Children with Drug Resistant Epilepsy Treated with Ketogenic Diet

Abstract Background The ketogenic diet (KD) is a high-fat, adequate-protein, low-carbohydrate diet. Ketogenic diet therapy (KDT) has become an important option in the management of drug- resistant epilepsy and some of the inborn errors of metabolism in children, with increasing evidence of its favorable effects. Objective To evaluate patient's compliance to KD in children with drug resistant epilepsy (DRE) and the effect of KD on course and outcome of DRE. Methodology This cross-sectional study included 42 children whose age ranged between 1 month and 18 years with drug resistant epilepsy (DRE) on ketogenic diet for at least 3 months. They were recruited from the Ketogenic Diet Clinic, Children’s hospital, Ain Shams University, Cairo, Egypt. They were assessed for anthropometric measurements, betahydroxybutyrate (BHB) in blood,and acetone in urine, fasting lipid profile,serum random blood sugar;The frequency and severity of convulsions were assessed using chalfont severity scale before and after applying KD and correlated with the laboratory markers measured. Results Beta hydroxybutarate levels in blood ranged from (0.1 - 4.6) achieving ketosis in 37patient (BHB>2 mmol/L). As regard frequency of convulsions per day there was highly significant decrease after 3 month of KD with p < 0.001 compared to that before using the KD. On applying chalfont seizure severity scale on our patients there was highly significant decrease in the severity of the seizure with p < 0.001 after KD. Regarding the frequency of possible complications associated with KD, 69% of the patients had no complication, while 26.2% had constipation, 26.2% had hyperlipidemia, 2.4 % had vomiting, 2.4 % had kidney stones, and 2.4 % had urinary gravels. Conclusion KD is an effective, safe, and tolerable therapy for children with DRE where significant improvement in both frequency and severity of seizures after KD were found.

Utilization of EEG microstates as a prospective biomarker for assessing the impact of ketogenic diet in GLUT1-DS.

The aim of the study is to analyze microstate patterns in GLUT1-DS, both before and after the ketogenic diet (KD). We conducted microstate analysis of a patient with GLUT-1 DS and 27 healthy controls. A systematic literature review and meta-analysis was done. We compared the parameters of the patients with those of healthy controls and the incorporating findings in literature. The durations of the patient were notably shorter, and the occurrence rates were longer than those of healthy controls and incorporating findings from the review. After 10months of KD, the patient's microstate durations exhibited an increase from 53.05ms, 57.17ms, 61.80ms, and 49.49ms to 60.53ms, 63.27ms, 71.11ms, and 66.55ms. The occurrence rates changed from 4.0774Hz, 4.9462Hz, 4.8006Hz, and 4.0579Hz to 3.3354Hz, 3.7893Hz, 3.5956Hz, and 4.1672Hz. In healthy controls, the durations of microstate class A, B, C, and D were 61.86ms, 63.58ms, 70.57ms, and 72.00ms, respectively. Our findings suggest EEG microstates may be a promising biomarker for monitoring the effect of KD. Administration of KD may normalize the dysfunctional patterns of temporal parameters.

Efficacy and cognitive impact of modified Atkins diet in adults with drug-resistant epilepsy

This study aims to explore the efficacy and cognitive impact of the modified Atkins diet (MAD) in adults with drug-resistant epilepsy, as well as to analyze changes in epileptiform activity during ketogenic diet (KD) intervention. We performed a prospective, open-label study with patients aged 16 – 60 years who met the International League Against Epilepsy (ILAE) criteria for drug-resistant epilepsy. Sixteen patients were enrolled in this study, and baseline clinical and electroencephalography (EEG) characteristics, along with neuropsychological tests, were collected before and after 3 months of KD. Patients were divided into responders (≥50% seizure reduction) and non-responders (<50% seizure reduction) according to the clinical efficacy of the KD. Results indicate that 37.5% of patients reported a ≥50% seizure reduction after 3 months. In terms of safety, 37.5% of patients reported adverse effects, including constipation, abdominal pain, and nausea. In addition, a statistically significant increase in the level of total cholesterol was observed (P = 0.037) after diet treatment. Regarding cognitive impact, there was a significant improvement in auditory verbal learning test (AVLT) instant recall scale scores (P = 0.017). In terms of EEG characteristics, MAD significantly reduces interictal epileptic discharge (IED) index in non-rapid eye movement 2 (NREM2) after 3 months. No clinical predictors or EEG characteristics of MAD efficacy were identified. In conclusion, MAD can be safely and effectively practiced by adults with drug-resistant epilepsy. KD treatment has a significant impact on AVLT instant recall and can reduce the IED index in NREM2.

Feasibility, tolerability and efficacy of the ketogenic diet in children with drug-resistant epilepsy in Vietnam.

According to the WHO, more than 50 million people have epilepsy. Among them, nearly 80% of patients with epilepsy live in developing countries and 75% of them do not have access to treatment. The ketogenic diet (KD) has been shown as an effective alternative for patients with drug-resistant epilepsy. Although it has been studied in Asia, no such studies have been conducted in Vietnam. The purpose of this study was to verify the feasibility and tolerability of KD in children with refractory epilepsies in Vietnam. Children with drug-resistant epilepsy followed at Children's Hospital, Vietnam treated by KD were included in a prospective study from June 2019 to October 2021. Side-effects, retention rate, number, and duration of seizures were recorded after 1, 3, 6, 9 and 12 months of KD. Patients were considered as respondents when a 50% seizure frequency was reached. Tolerance and acceptability of the KD were closely monitored. Forty-six children were included but KD was contraindicated for one patient. Due to the COVID pandemic, we had to rely on internet exchanges to stay in touch with families. Meals had to be adapted to Vietnamese culinary habits. The retention rate decreased from 82.2% at 1 month to 40% at 12 months of follow-up. The incidence of side effects was 44.4% and occurred mainly during the first month. Fifteen patients out of 45 were considered as responders after 12 months. Our study was the first attempt to introduce KD in Vietnam. It demonstrated that this diet was feasible and well tolerated. The KD diet resulted in significant improvement for 30% of our patients with drug-resistant epilepsy. This percentage is lower than in some studies but warrants the use of KD as a valuable alternative in a country where many patients lack access to recent treatments.

The Effect of Ketogenic Diet on Neutrophil Count

Abstract Background The Ketogenic Diet (KD) is a high-fat, low-carbohydrate, and adequate-protein diet and a well-established treatment option for drug resistant childhood epilepsies. Neutrophils are important component of humans` innate phagocytic defense which usually arrive first at sites of infection and/or inflammation. Objectives The objective of this study was to assess the effect of ketosis induced by KD on neutrophils count. Methods This case control study was done in the Ketoclinic, Children’s Hospital, Ain Shams University, during the period of May 2018 till December 2019. It included 21 patients and 9 age and sex matched healthy children as a control group. Neutrophil counts were measured in both patients and controls both initially and after 6 months of KD usage. Results Although three patients reported increased incidence of infection after commencement of KD, the current study showed no significant change in the neutrophil count in studied patients compared to the controls after 6 months of KD. Conclusion KD has no effect on neutrophil number, however, further detailed studies for the full immunological profile including their function is needed to ensure that patients receiving this line of therapeutic nutrition aren`t susceptible to increased risk of infections.

Effect of ketogenic diet for drug-resistant epilepsy on immunological cells.

Ketogenic diet (KD) is one of the treatments in drug-resistant epilepsy (DRE). The current study aimed at assessing the effect of KD-induced ketosis on different immunological cells since ketosis is reported to affect neutrophil function. We recruited 21 pediatric patients diagnosed with DRE assigned to start KD. Anthropometric measurements, complete blood picture with differential count, phagocytic function, lymphocyte subsets, and IgG estimation were estimated initially and after 6months of KD. There were no differences between the initial total leucocytic, neutrophil, and lymphocytic counts as well as the lymphocyte subsets, and the values after 6months of KD. IgG values showed significant increase yet the values were still within the reference ranges. For the innate immune system, the phagocytic index was assessed and it showed a marked statistical reduction in patients after KD. KD has no effect on neutrophil and lymphocytic counts as well as the number of adaptive and immune cells; nevertheless, it causes a reduction in phagocytic index in DRE. Accordingly, further detailed study for the full immunological profile and function is needed to ensure the safety of this therapeutic line and correlate it with the clinical history.

One Month of Classic Therapeutic Ketogenic Diet Decreases Short Chain Fatty Acids Production in Epileptic Patients.

Ketogenic diet (KD), a high fat and very low carbohydrates diet, is used worldwide for the treatment of drug resistant epilepsy but, due to its composition, it might exert an impact on gut health. Even though data of KD effects on intestinal microbiota changes are recently emerging, its influence on the gut environment has been scarcely addressed so far. The aim of this study was to investigate whether 1 month of KD affects the gut environment in epileptic patients, by analyzing short chain fatty acids (SCFA) production and fecal water toxicity. A total of seven patients were enrolled. Stool samples were collected before (T0) and after 1 month of KD (4:1 ketogenic ratio) (T1). SCFA were determined by GC-FID and fecal water toxicity in Caco-2 cell culture by comet assay. Concentrations of SCFA significantly decreased after KD (p < 0.05): in particular, we found a 55% reduction of total SCFA level, a 64% reduction of acetate, 33% of propionate, and 20% of butyrate (p < 0.05). Cytotoxicity of fecal water extracted from stool samples was not significantly altered by diet, while genotoxicity was slightly decreased after KD (p < 0.05). Genotoxicity values were consistent with data previously obtained from a healthy Italian population. The present study suggests that 1 month of KD significantly reduce SCFA production. Since SCFA produced by gut microbiota exert many health promoting effects on either the gut environment or human metabolism, these results open a new branch of investigation into KD effects.

Absence of increased blood decanoic acid levels in children with epilepsy treated with classic ketogenic diet.

Recently, decanoic acid (C10), a medium-chain fatty acid, was shown to be a direct inhibitor of the AMPA receptor. Accordingly, C10 has been suggested as a potential anticonvulsant factor in the ketogenic diet (KD) or the medium-chain triglyceride KD. Here, we tested whether C10 serum levels correlate with the response to KD in five children (1.5 ± 0.6 years of age) with epilepsy. The serum levels of C10 were measured before and after KD initiation (n=2 at one month, n=3 at three months, and n=1 at six months after initiation) by gas chromatography-mass spectrometry. After three months on KD, two patients were found to be responders. The mean serum level before KD initiation was 63.2μM. Only one patient, who was a non-responder, showed an increase (5%) in C10 serum level after a month of KD. The remaining four patients (two responders) showed a decrease in the C10 level from -5.3% to -75.5%. Our preliminary data show that KD does not lead to an increase in C10 serum levels, suggesting that increased concentration of C10 might not be directly involved in the anticonvulsant effects of classic KD.

Prognostic utility of hypsarrhythmia scoring in children with West syndrome after ketogenic diet

ObjectiveThe aim of this study was to evaluate the clinical efficacy and electroencephalographic (EEG) changes of West syndrome after ketogenic diet (KD) therapy and to explore the correlation of EEG features and clinical efficacy. Patients and methodsWe retrospectively studied 39 patients with West syndrome who accepted KD therapy from May 2011 to October 2017. Outcomes including clinical efficacy and EEG features with hypsarrhythmia severity scores were analyzed. ResultsAfter 3 months of treatment, 20 patients (51.3%) had ≥50% seizure reduction, including 4 patients (10.3%) who became seizure-free. After 6 months of treatment, 4 patients remained seizure free, 12 (30.8%) had 90–99% seizure reduction, 8 (20.5%) had a reduction of 50–89%, and 15 (38.5%) had <50% reduction. Hypsarrhythmia scores were significantly decreased at 3 months of KD. They were associated with seizure outcomes at 6 months independent of gender, the course of disease and etiologies. Patients with a hypsarrhythmia score ≥8 at 3 months of therapy may not be benefited from KD. ConclusionOur findings suggest a potential benefit of KD for patients with drug-resistant West syndrome. Early change of EEG after KD may be a predictor of a patient’s response to the therapy.

Efficacy of a ketogenic diet in resistant myoclono-astatic epilepsy: A French multicenter retrospective study

ObjectiveRecent studies have suggested that the early introduction of a ketogenic diet (KD) could improve seizure control in myoclono-astatic epilepsy (MAE). This multicenter study sought to identify the benefits of KD use on seizure control and epilepsy and on developmental outcomes in children with resistant MAE. MethodsFifty children who were diagnosed with severe MAE in the French network of Reference Centers for Rare Epilepsies and who were treated with KD between 2000 and 2013 were included in this study. The seizure frequency and EEG recordings were assessed two weeks before KD introduction, 2 and 6 months after, and during the last follow-up, which also included an assessment of developmental outcome. ResultsPatients had a median follow up of 52 months (range 13–136) and received 4.3 antiepileptic drugs [2–9] before KD introduction. Fifty-four percent (54%) of our patients were seizure-free after 6 months of KD or more, and 86% experienced more than a 70% seizure reduction after 2 months of KD. Forty-four percent (44%) of them had a clear benefit of early KD treatment (after four AEDs failed). Early KD treatment did not result in a greater seizure reduction (p=0.055), but significantly resulted in remission (p<0.028). Fifty percent of patients with resistant MAE had normal development outcomes. Earlier KD treatment, after three AEDs failed, was correlated with a better cognitive outcome (p<0.01). SignificanceEarly introduction of KD treatment in resistant MAE has a strong, persistent anticonvulsant effect with long-term remission and better cognitive outcomes.

The Effect of Ketogenic Diet on Serum Selenium Levels in Patients with Intractable Epilepsy.

The aim of the present study was to evaluate serum selenium levels in children receiving olive oil-based ketogenic diet (KD) for intractable seizures for at least 1year. Out of 320 patients who were initiated on KD, patients who continued receiving KD for at least 12months were enrolled. Sixteen patients who had selenium deficiency at the time of starting KD were excluded. Finally, a total of 110 patients (mean age 7.3±4.2years) were included. Serum selenium levels were measured at baseline and at 3, 6, and 12months after treatment initiation by using atomic absorption spectroscopy. Selenium deficiency was defined as a serum selenium level <48μg/L at each visit. Repeated measure ANOVA with post hoc Bonferroni correction was used for data analysis. Mean duration of KD was 15.3±4.3months. Mean serum selenium levels were significantly lower at 6 and 12months of KD treatment (66.2±23.3 and 57.2±16.2μg/L, respectively) compared to pre-treatment levels (79.3±25.7μg/L) (p=0.001). On the other hand, selenium levels did not show any significant difference at 3months of KD treatment (70.0±21.2μg/L) compared to baseline levels (p=0.076). A total of 54 patients (49.1%) were diagnosed with selenium deficiency, and oral selenium medication was initiated for these patients. No relevant clinical findings were detected, and echocardiographic findings were normal in all patients. The decline of the serum selenium concentrations after 6 and 12months of ketogenic diet suggests that patients on this highly prescriptive dietary treatment need close monitoring of this trace element.

1. Cortical functional correlates of responsiveness to short-lasting preventive intervention with ketogenic diet in migraine: A multimodal evoked potentials study

A ketogenic diet (KD) – a drastic restriction in carbohydrate and lipid intake promoting fat metabolism and ketone body synthesis – has a role in preventing migraine. Here, we aim to identify cortical neurophysiological correlates of responsiveness to short-lasting preventive intervention with KD in migraine. Thus, we recorded visual (VEPs) and median nerve somatosensory (SSEPs) evoked potentials in 18 interictal migraine patients before and after 1 month of KD during ketogenesis. We measured VEP N1-P1 and SSEP N20-P25 amplitudes respectively in 6 and in 2 sequential blocks of 100 sweeps as well as habituation as the slope of the linear regression between block 1 and 6 for VEPs or between 1 and 2 for SSEPs. After 1-month of KD, a significant reduction in the mean attack frequency and duration was observed (all P < 0.001). The KD did not change the 1st SSEP and VEP block of responses, but significantly induced normalization of the interictally reduced VEPs and SSEPs (all p < 0.01) habituation during the subsequent blocks. KD could restore normal EPs habituation curves during stimulus repetition without significantly changing the early amplitude responses. Thus, we hypothesize that KD acts on habituation regulating the balance between excitation and inhibition at the cortical level.

Cortical functional correlates of responsiveness to short-lasting preventive intervention with ketogenic diet in migraine: a multimodal evoked potentials study.

BackgroundHere, we aim to identify cortical electrofunctional correlates of responsiveness to short-lasting preventiveintervention with ketogenic diet (KD) in migraine.MethodsEighteen interictal migraineurs underwent visual (VEPs) and median nerve somatosensory (SSEPs) evokedpotentials before and after 1 month of KD during ketogenesis. We measured VEPs N1-P1 and SSEPs N20-P25 amplitudes respectively in six and in two sequential blocks of 100 sweeps as well as habituation as theslope of the linear regression between block 1 to 6 for VEPs or between 1 to 2 for SSEPs.ResultsAfter 1-month of KD, a significant reduction in the mean attack frequency and duration was observed (all P< 0.001). The KD did not change the 1st SSEP and VEP block of responses, but significantly inducednormalization of the interictally reduced VEPs and SSEPs (all p < 0.01) habituation during the subsequentblocks.ConclusionsKD could restore normal EPs habituation curves during stimulus repetition without significantly changing theearly amplitude responses. Thus, we hypothesize that KD acts on habituation regulating the balancebetween excitation and inhibition at the cortical level.

The Impact of 3:1 Ketogenic Diet on Cardiac Repolarization Changes in Children with Refractory Seizures: A Prospective Follow-Up Study.

Background The association between ketogenic diet (KD) and prolonged QT interval, life-threatening ventricular arrhythmias, and sudden death is controversial. Aim We aimed to prospectively evaluate the effect of KD on electrocardiography (ECG) measures in children with refractory epilepsy. Method A total of 70 children with drug-resistant epilepsy who received a KD for at least 12 months were included in the study. The standard 12-lead electrocardiography was performed in all patients before the beginning and in the 12th month of KD. Heart rate, P-wave duration and dispersion, corrected QT interval and QT dispersion, and Tp-e interval were measured. Results All ECG-derived parameters, but P-wave dispersion increased after 12 months of KD compared with the baseline values. However, these changes were not statistically significant. Conclusion A 12-month long 3:1 KD treatment exerts no deleterious effect on cardiac repolarization measures.

Ketogenic diet effects on neurobehavioral development of children with intractable epilepsy: A prospective study.

This study aimed to determine the impact of a ketogenic diet (KD) on neurobehavioral development when used to treat children with intractable epilepsy, confirming the efficacy of the KD, as well as the correlation between early electroencephalography (EEG) changes in the early stage with treatment efficacy. We enrolled 42 children who were starting treatment for intractable epilepsy with the classic KD protocol. The total development quotient as well as the development quotients for adaptability, gross motor movements, fine motor movements, language, and individual-social interaction on the Gesell developmental scales were assessed before and after 3, 6, 12, and 18 months of KD treatment. The efficacy assessment was based on changes in seizure frequency after KD as recorded by the parents. We conducted 24-h video-EEG before and after 1 month of KD treatment. Developmental quotients of five energy regions in the Gesell developmental scales assessment were used to compare adaptability (P1=0.000), gross motor movements (P2=0.010), and fine motor movements (P3=0.000); the results showed significant differences. After KD treatment at different time points, 69.0%, 54.8%, 40.5%, and 33.3% patients, respectively, achieved a ≥50% reduction in seizure frequency. The reduction of epileptiform discharges in the awake state after 1 month of KD treatment correlated with the efficacy after 3 months of KD treatment. Ketogenic diet treatment tends to be associated with improved neurobehavioral development, and more significant improvement can be obtained with prolonged treatment. The KD is safe and effective in treating children with intractable epilepsy. Early EEG changes correlate with clinical efficacy, to a certain degree.

O017. Cortical functional correlates of responsiveness to short-lasting preventive intervention with ketogenic diet (KD) in migraine: a multimodal evoked potentials study.

Here, we aim to identify cortical electrofunctional correlates of responsiveness to short-lasting preventiveintervention with ketogenic diet (KD) in migraine. Eighteen interictal migraineurs underwent visual (VEPs) and median nerve somatosensory (SSEPs) evokedpotentials before and after 1 month of KD during ketogenesis. We measured VEPs N1-P1 and SSEPs N20-P25 amplitudes respectively in six and in two sequential blocks of 100 sweeps as well as habituation as theslope of the linear regression between block 1 to 6 for VEPs or between 1 to 2 for SSEPs. After 1-month of KD, a significant reduction in the mean attack frequency and duration was observed (all P< 0.001). The KD did not change the 1st SSEP and VEP block of responses, but significantly inducednormalization of the interictally reduced VEPs and SSEPs (all p < 0.01) habituation during the subsequentblocks. KD could restore normal EPs habituation curves during stimulus repetition without significantly changing theearly amplitude responses. Thus, we hypothesize that KD acts on habituation regulating the balancebetween excitation and inhibition at the cortical level.

Ketogenic diet for infantile spasms refractory to first-line treatments: An open prospective study

Ketogenic diet (KD) is an efficient treatment for refractory epilepsy including infantile spasms (IS). We evaluated the effect of a KD to treat IS as a third-line treatment, after vigabatrin (VGB) and steroids. We evaluated the efficacy and the tolerability of KD in IS using the rate of seizure-free patients at 1 month. We conducted an open study using the data from a prospective database of two French child neurology departments (Amiens & Robert Debré-Paris, France) over a three-year period. All the patients followed the KD for 6 months. The addition of an antiepileptic drug was allowed after 1 month of KD in the non-seizure-free patients. 17 patients were treated by KD for IS. The KD was initiated at the mean age of 9.4±1.1 months. After 1 month with KD, 6/17 (35%) patients were seizure free while 11/17 (65%) were seizure-free after the third month. However, an additional antiepileptic drug (felbamate or topiramate) was given to all patients that were not seizure-free under KD. The KD was well tolerated. Our responder rate is similar to previous studies despite an early use (before 1-year-old) and the use of KD after VGB and steroids. The KD was well-tolerated in this population of young infants. Felbamate leads to an increase in the responder rate after the use of KD.

Glucose Transporter-1 (GLUT1) Deficiency Syndrome: Diagnosis and Treatment in Late Childhood

Typical cases of glucose transporter-1 deficiency syndrome (GLUT1-DS) present with early-onset epilepsy. We report symptoms, diagnostic results, and effects of therapy in two patients diagnosed with GLUT1-DS at the age of 10 and 15 years, respectively. Patient 1: After four cerebral seizures in the first 2 years of life the patient was seizure-free but showed a complex movement disorder, expressive speech disorder, and mental retardation. Ratio of cerebrospinal fluid (CSF) to blood glucose was 0.41 (reference range 0.65 ± 0.1), molecular genetic testing confirmed GLUT1 deficiency with the novel pathogenic mutation c.1377dupC (p.Phe460LeufsX3) in the SLC2A1 gene. Following 9 months of ketogenic diet started at the age of 10 years, there was distinct improvement of speech and movement disorder. Patient 2 showed pharmacorefractive epilepsy, mental retardation, and a mild movement disorder. At the age of 15 years, extensive intake of food with high fat content was observed. Ratio of CSF to blood glucose was 0.41 (reference range 0.65 ± 0.1). The pathogenic mutation c.634C>T (p.Arg212Cys) was found in the SLC2A1 gene. Self-induced high-fat diet can be a hint toward GLUT1-DS. Ketogenic diet can be beneficial even when started in late childhood, although it may take several months to achieve a positive effect.

Efficacy of the ketogenic diet in Lennox–Gastaut syndrome: a retrospective review of one institution’s experience and summary of the literature

To determine the efficacy of the ketogenic diet for children with Lennox-Gastaut syndrome (LGS) at our institution and in the literature. The records of children with LGS initiated on the ketogenic diet at our institution from 1994 to 2010 were reviewed. Inclusion criteria included the presence of ≤2.5Hz spike-and-wave complexes on electroencephalogram, multiple seizure types including tonic, atonic, or atypical absence, developmental delay, and age under 1 year. We additionally reviewed the literature for cases of LGS treated with the ketogenic diet and their outcomes. Seventy-one children (41 males, 30 females, median age 3y 6mo, range 18mo-18y), with LGS were initiated on the ketogenic diet. Using an intent-to-treat analysis, after 6 months, 36 (51%) achieved more than 50% seizure reduction, 16 (23%) experienced more than 90% seizure reduction, and 1 (1%) achieved seizure freedom. Results were similar after 12 months. Age, sex, side effects, valproate use, and history of infantile spasms were not predictive of more than 90% seizure reduction. In the literature, 88 of 189 (47%) children with LGS had more than 50% seizure reduction after 3 to 36 months of ketogenic diet treatment. The ketogenic diet is efficacious in the treatment of LGS, with approximately one-half of children responding at 12 months.