Purpose/Aim Ehlers-Danlos syndrome (EDS) is a hereditary connective tissue disease. Epilepsy is not a common neurological finding in EDS. Here we report a pediatric patient with EDS comorbid with STXBP1 related epileptic encephalopathy as 'electrical status epilepticus during slow-wave sleep (ESES)' and whose refractory epileptic seizures were controlled with ketogenic diet. Case report A 6-year-old girl who had EDS presented with refractory seizures and worsening cognitive functions. Her sleep electroencephalography (EEG) revealed electrical status epilepticus during slow-wave sleep (ESES). The epileptic encephalopathy panel revealed a de novo c.560C > T (p.pro187Leu) heterozygous mutation in the STXPB1 gene. Ketogenic diet treatment was started for her refractory seizures and seizures stopped in the third month of the 3:1 classical ketogenic diet. Conclusion Our case is remarkable due to the coexistence of EDS and epileptic encephalopathy as well as ESES findings in STXBP1-associated epileptic encephalopathy and is therefore presented. Ketogenic diet would be beneficial on the management of refractory seizures in STXBP1-related epileptic encephalopathy and ESES.

Background. We aimed to investigate the effectiveness of ketogenic diet (KD) in children with various types of refractory epilepsy. Methods. A total of 91 children (49 females) aged 3 to 193 months (median, 52 months) with drug resistant epilepsy who received KD treatment for at least 12 months were enrolled in the study. Seizure frequency, adherence to diet, reason for discontinuation of KD, and adverse effects were recorded. Response was defined as ≥50% improvement in seizure frequency compared to baseline. We also searched for influences of different variables on the outcome. Results. Intent-to-treat analysis revealed an improvement in seizure frequency for ≥50% in 73.6%, 80.2%, 75.8%, 73.6%, and 70.3% of patients at month-1, -3, -6, -9, and month-12, respectively. Overall, 32 (35.2%) patients remained seizure-free at month-12. There was no significant differences between responders and nonresponders in terms of age at onset of epilepsy, age at onset of KD, gender, or etiology. Mild hyperlipidemia was associated with a higher response rate. At the last follow-up (median: 20 months), 38 (41.8%) patients were still maintained on KD. While 15.4% of patients completed the diet with a success in seizure control, remainder discontinued KD due to lack of efficacy (23.1%), non-adharence to diet (11%), intercurrent infection (4.4%), adverse effects (3.3%), and death (1.1%). Conclusion. Ketogenic diet treatment appears to be effective in about two-thirds of children with various types of drug-resistant epilepsy, including one-third remaining seizure free. Mild hyperlipidemia seems to be associated with a higher response rate. Discontinuation of KD is mostly due to lack of efficacy or nonadherence, and rarely side effects.

BACKGROUND:Ketogenic diet (KD) remains a valuable treatment option for children with drug-resistant epilepsy. However, it may cause many well-known adverse effects such as dyslipidemia or kidney stones. But, its effects on thyroid functions are largely unknown.PURPOSE:The aim of this study was to investigate the effects of the KD on thyroid functions in children with drug-resistant epilepsy.METHOD:A total of 66 children (35 females) aged 3-193 months (median, 52 months) with drug-resistant epilepsy who received a KD for at least 12 months were enrolled in the study. All children were started on KD with 3:1 ratio which was then adjusted as clinically necessary. Serum free-thyroxine (FT4) and thyroid stimulating hormone (TSH) concentrations were measured before starting treatment and at the first, sixth and twelfth months of treatment. Changes in FT4 and TSH concentrations over 12 months were analyzed.RESULTS:Median serum FT4 and TSH concentrations, and the frequencies of patients with low FT4 and high TSH concentrations did not change significantly in the study sample over the 12-month study period. Serum FT4 levels increased significantly and TSH concentrations decreased insignificantly in four patients receiving L-thyroxine replacement therapy. During the 12-month treatment period, BMI-SDS increased, and the number of antiepileptic drugs decreased significantly.CONCLUSION:It appears that KD therapy does not impair thyroid functions in children with drug-resistant epilepsy. KD can be used safely along with L-thyroxine replacement even in children with pre-existing subclinical hypothyroidism.

Background: Sleep disorders are common in drug-resistant children with epilepsy and their mothers. Ketogenic diet therapy (KDT) may have positive effects on sleep quality. The aim of this study was to evaluate the sleep quality of children with epilepsy and their mothers after starting KDT. Methods: Using a prospective cross-sectional model, pre-and post-KDT questionnaires were given to the study subjects. A children's sleep habits questionnaire was administered to children with epilepsy, and the Pittsburgh sleep questionnaire was administered to their mothers. Sociodemographic and some clinical categorical variables of the patient group were evaluated using descriptive statistics. Evaluation of the data was conducted using the Wilcoxon and paired t-tests as parametric and non-parametric tests. Results: Of 24 patients scheduled to begin KDT between January 2019 and January 2020, 14 were included in the study. Regarding sleep quality, improvement was reported in 7 (50%) of 14 patients, deterioration in 5 (35.7%) patients, and no change was seen in 2 (14.3%) patients. Sleep quality was reported to improve in all working mothers. Seven (50%) patients reported no seizures and 6 (42.9%) patients reported more than 50% seizure reduction. Although there were improvements in sleep scores in both groups, these improvements were not statistically significant. A significant decrease in sleep anxiety was reported in children after the third month of the KDT (p = 0.09). Conclusions: The results of this study determined that three months of KDT offered significant improvement on the sleep anxiety of children with epilepsy. It was thought that paying attention to patient selection may lead to better sleep quality by increasing compliance to KDT. However, a larger scale study and longer term follow-up should be done. (c) 2021 Elsevier Inc. All rights reserved.

BACKGROUND:Ketogenic diet (KD) is a valuable treatment option for patients with medication-resistant epilepsy. It is associated with a number of side effects. However limited data are available for the long-term effects of KD on serum lipid levels.PURPOSE:The aim of this study was to investigate the long-term effects of KD on serum lipid concentrations in children with medication-resistant epilepsy in daily clinical practice.METHOD:A total of 73 children (40 girls) aged 3 to 193 months (median, 53 months) with medication-resistant epilepsy who received a KD treatment for at least 12 months between 2014 and 2019 years were enrolled in the study. All children were started on a KD with 3:1 ratio which was then adjusted between 2:1 to 4:1 after the onset of KD as clinically necessary. Serum total cholesterol, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglyceride concentrations and body mass index-standard deviation scores (BMI-SDS) were measured at onset and at 1, 6 and 12 months of treatment, and also in 40 of these patients they were measured at 18 and 24 months of treatment.RESULTS:Dyslipidemia was observed in 71.2, 63, 63, 50, and 52.5% of the patients, at 1, 6, 12, 18, and 24 months, respectively. Median total cholesterol and triglyceride concentrations increased significantly at month-1, and although these high levels persisted for 24 months, the increase did not continue and showed a downward trend. However, this increase did not occur in the subset of patients with pre-existing dyslipidemia. Compared to baseline values, total cholesterol and triglyceride concentrations were higher at all time points, except 24-month cholesterol values. During the 24-month treatment period, BMI-SDS increased and the number of antiepileptic drugs decreased significantly.CONCLUSION:Total cholesterol and triglyceride concentrations appear to increase during the first month of KD treatment, and although these high values persist for 24 months, the increase does not continue, on the contrary, it approaches the normal values by drawing a downward trend. However, cholesterol and triglyceride concentrations do not increase in the subset of patients with pre-existing dyslipidemia.

Objective: Irritable bowel syndrome is a disease that negatively affects life. Recently, diet therapies have been emphasized. Our study, the aim was to investigate the effect of low FODMAP (fermented oligo-, di-, monosaccharide and polyols) diet on the frequency of gastrointestinal symptoms and the effects on quality of life in patients with IBS. Method: 18 children aged between 7-18 years, who were diagnosed with IBS, followed by University of Health Sciences Izmir Dr. Behçet Uz Children’s Diseases and Surgery Training and Research Hospital the Child Gastroenterology, Hepatology and Nutrition Clinic were included in the study. The appropriate KINDL scale was applied at the time of application and 2 weeks after the end of the low FODMAP diet. GIS symptoms of the week 0 and 6 KINDL results were compared. KINDL scale was applied to the families before and after dieting and the results were compared. Results: The study was completed with 10 patients. The most common symptom was abdominal pain and it was present in all patients. All symptoms were found to decrease after diet but it was not significant. There was a significant increases in emotional well-being, family divisions and total KINDL results at the 6th week of diet in the children In parent KINDL scales, the results were not considered significant. Conclusion: Despite there was a decrease in GIS related complaints and increase in quality of life in IBS patients who underwent low FODMAP diet, it has been found appropriate to continue the study with larger patient groups for longer follow-up periods.

High-fat, low-carb ketogenic diets have been used around for over a century for the treatment of epilepsy. In recent years, the use of ketogenic diets traditionally used for the treatment of resistant pediatric epilepsies has expanded to include conditions ranging from refractory status epilepticus to febrile infectionrelated epilepsy syndrome. In such cases where the enteral route can not be used, it may be life-saving to consider the parenteral ketogenic diet. However, there are some points to be considered for proper and effective monitoring by starting this treatment effectively and reliably. The aim of this review is to increase the awareness of physicians and dieticians on this subject in the light of the case reports, studies and international clinical practice guide.

Nonketotik hiperglisinemi (NKH), glisin yıkımında görevli bir enzim eksikliğine bağlı otozomal resesif geçiş gösteren bir metabolizma hastalığıdır. Hipotoni, gelişme geriliği ve ilaca dirençli nöbetler ile karakterizedir. Gelişme geriliği ve 45 günlük iken başlayan nöbetler nedeniyle başvuran ve nonketotik hiperglisinemi tanısı alan hastaya yatışının ikinci gününde levetirasetam, dekstrometorfan ve sodyum benzoat tedavisi başlanmıştır. İzlemde fenobarbital eklenmesine karşılık nöbetleri devam eden hastaya ketojenik diyet tedavisi (KDT) başlanması planlanmıştır. Belirgin bir yan etkinin görülmediği hastada, tedavinin üçüncü gününden itibaren nöbet sıklığı ve şiddetinde %50’den fazla azalma görülmüştür. Klasik KDT, antiepileptik ilaçlara dirençli NKH hastalığında etkin ve güvenilir bir tedavi yöntemi olabilir.

Objective: The aim of our study is to evaluate the effect and side effects of ketogenic diet in add-on therapy for treatment-refractory epileptic children cohort followed by our ketogenic diet team. Methods: The medical files of 27 patients who were followed up for at least 6 months between March and November 2016 in HSU Dr. Behcet Uz Children's Diseases and Surgery Training and Research Hospital Pediatric Neurology Polyclinic were evaluated retrospectively. After the diseases in which the ketogenic diet was contraindicated were excluded, the consent form was obtained from the families and the diet started after the training. Patients were monitored quarterly by our team for clinical and laboratory findings with regard to efficacy and side effects. Results: A total of 27 patients (male, n=11; 40.7%, and female, n=16: 59.3%) aged 11 months to 15 years. participated in the study. The majority had focal seizures and 15 (55.5%) of them had other types of seizure. Most (77.7%) of them had symptomatic epilepsy. Retrospective chart review revealed that in 74%, and 11.1% of the patients number of seizures experienced decreased >= 50%, and < 50%, respectively. While. 14,8% of them were seizure-free and in 7.4% of them seizure activity increased. Complications were seen in 37% of the patients which consisted of hyperlipidemia (14.8%), urolithiasis (14,8%) and gastrointestinal disorders (7.4%). Number of seizures decreased >= 50%, in 15 of 19 patients aged 0-11 years and in 6 of 8 patients in the 11-15 age group. In 8 (29.6%) children secondary benefits (in motor, cognitive and speech areas) were derived from ketogenic diet. Conclusion: The results of our study showed that ketogenic diet was an efficacious non-pharmacological therapy for children with drug-resistant epilepsy. These children must be followed regularly by the experienced ketogenic diet team for potential side effects.