Background: Various etiologies may underlie optic neuritis, including autoantibody-mediated disorders described in the last decade. We re-examined demographic, clinical, laboratory features and prognostic factors in pediatric patients with autoimmune optic neuritis according to current knowledge.Methods: Cases of pediatric ON from 27 centers in Turkiye diagnosed between 2009 and 2022 were included for retrospective evaluation.Results: The study included 279 patients, 174 females and 105 males, with a female-to-male ratio of 1.65. The average age at onset was 12.8 +/- 3.4 years, and mean follow-up, 2.1 years (range: 1-12.1 years). Patients <10 years old were grouped as "prepubertal" and those >= 10 years old as "others". The diagnoses made at the end of follow-up were multiple sclerosis associated optic neuritis (n = 90, 32.3 %), single isolated optic neuritis (n = 86, 31 %), clinically isolated syndrome (n = 41, 14.7 %), myelin oligodendrocyte glycoprotein antibody associated optic neuritis (n = 22, 7.9 %), and relapsing isolated optic neuritis (n = 18, 6.5 %). Predominant diagnoses were myelin oligodendrocyte glycoprotein antibody associated optic neuritis and acute disseminated encephalomyelitis associated optic neuritis in the prepubertal group and multiple sclerosis associated optic neuritis in the older group. Recurrences were observed in 67 (24 %) patients, including 28 with multiple sclerosis associated optic neuritis, 18 with relapsing isolated optic neuritis, 11 with myelin oligodendrocyte glycoprotein antibody associated optic neuritis, 8 with aquaporin-4 antibody related optic neuritis, and 2 with chronic relapsing inflammatory optic neuropathy. Recurrences were more common among female patients. Findings supporting the diagnosis of multiple sclerosis included age of onset >= 10 years (OR=1.24, p = 0.027), the presence of cranial MRI lesions (OR=26.92, p<0.001), and oligoclonal bands (OR=9.7, p = 0.001). Treatment in the acute phase consisted of intravenous pulse methylprednisolone (n = 46, 16.5 %), pulse methylprednisolone with an oral taper (n = 212, 76 %), and combinations of pulse methylprednisolone, plasmapheresis, or intravenous immunoglobulin (n = 21, 7.5 %). Outcome at 12 months was satisfactory, with 247 out of 279 patients (88.5 %) demonstrating complete recovery. Thirty-two patients exhibited incomplete recovery and further combination treatments were applied. Specifically, patients with relapsing isolated optic neuritis and aquaporin-4 antibody related optic neuritis displayed a less favorable prognosis.Conclusion: Our results suggest optic neuritis is frequently bilateral in prepubertal and unilateral in peri- or postpubertal patients. Age of onset 10 or older, presence of oligoclonal bands, and brain MRI findings reliably predict the development of multiple sclerosis. The risk of developing multiple sclerosis increases mostly during the second and third years of follow-up. Relapsing isolated optic neuritis remains a separate group where the pathogenesis and outcome remain unclear. Investigation of predisposing and diagnostic biomarkers and long follow-up could help to define this group.

PURPOSE:To compare electroencephalography (EEG) features of newly diagnosed drug-naive childhood absence epilepsy (CAE) and juvenile absence epilepsy (JAE) patients and analyze their response to anti-seizure medications (ASMs).METHOD:EEG characteristics between CAE and JAE patients and responders and non-responders to ASM at baseline and 12 months were compared, and the changes from baseline were analysed.RESULTS:A total of 62 patients (32 CAE and 30 JAE) were included. Discharges in baseline awake and sleep EEGs and interictal and polyspike discharges in baseline sleep EEGs were more frequent in JAE patients. Although the median discharge densities (discharge containing seconds per minute) were similar in baseline awake and sleep EEGs between the groups, the median was higher in the JAE group at 12 months and decreased significantly in both groups at 12 months compared to the baseline values. Responses to initial ASMs were 94% and 77% in the CAE and JAE groups, respectively. In initial sleep EEGs of non-responders with JAE, focal onset generalized spike and slow wave discharges (GSWDs) were more frequent, and the median ictal and interictal discharge densities were higher.CONCLUSION:JAE patients had more frequent disorganized discharges at baseline in both awake and sleep EEGs and interictal and polyspike discharges in sleep EEGs than those of CAE patients. Improvement in EEG was more pronounced in CAE patients than in JAE patients. Focal-onset GSWDs and higher ictal and interictal discharge densities on baseline EEG were associated with a poor response to initial ASMs in JAE patients.

Aycan Ünalp, Yiğithan Güzin, Bülent Ünay, Ayşe Tosun, Dilek Çavuşoğlu, Hande Gazeteci Tekin, Semra Hız Kurul, Ebru Arhan, Selvinaz Edizer, Gülten Öztürk, Uluç Yiş, Ünsal Yılmaz, Turkish Rare Epilepsies Study Group, Clinical and genetic evaluations of rare childhood epilepsies in Turkey's national cohort, Epileptic Disorders , 2023, ( https://doi.org/10.1002/epd2.20150 ) The above article, published online on 16 August 2023 on Wiley Online Library ( www.onlinelibrary.wiley.com ), has been retracted by agreement between the authors, the Editor‐in‐Chief, Sándor Beniczky, and John Wiley & Sons Ltd. The authors asked for a retraction based on an experimental error which would alter the results of the study if corrected.

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.

The term “epileptic encephalopathy” is used to describe a possible relationship between epilepsy and developmental delay. The pathogenesis of developmental encephalopathies, independent of epilepsy, can be defined by genetic control mechanisms. The aim of this study was to investigate the use of miRNAs as serum biomarkers for the determination and discrimination of epileptic encephalopathies. Whole blood samples obtained from 54 individuals in 2 groups designated as epileptic encephalopathy patients’ group ( n = 24) and healthy controls ( n = 30) were included in this study. The expression levels of 10 miRNAs were determined using qRT-PCR. After the determination of expression levels, the correlation of upregulated miRNA levels and Ki67 index was calculated using Pearson correlation test. The comparison of epileptic encephalopathy patients’ group with healthy controls revealed the upregulation of one miRNAs (hsa-miR-324-5p) and downregulation of three miRNAs (hsa-miR-146a-5p, hsa-miR-138-5p, hsa-miR-187-3p). It has been determined that miRNAs with altered expression are an important factor in the formation of epileptic seizures and seizure-induced neuronal death. The fact that processes that play a key role in epiloptogenesis are under the control of miRNAs causes miRNAs to become meta-controllers of gene expression in the brain. We thought that further studies are needed to prove that especially hsa-miR-146a-5p, hsa-miR-138-5p, and hsa-miR-187-3p can be used as epileptic encephalopathy biomarkers. The detection of disease-specific miRNAs could contribute to the development of precision treatments.

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.

INTRODUCTION AND PURPOSE:Neuronal ceroid lipofuscinoses (NCLs) is a group of congenital metabolic diseases where the neurodegenerative process with the accumulation of ceroid and lipofuscin autofluorescent storage materials is at the forefront. According to the age of presentation, NCLs are classified as congenital, infantile (INCL), late infantile (LINCL), juvenile (JNCL), and adult (ANCL) NCLs. In our study, it was aimed to discuss the clinical and molecular characteristics of our patients diagnosed with NCL.MATERIAL AND METHOD:This is a descriptive cross-sectional study which was conducted in 14 patients from 10 unrelated families who were diagnosed with different types of NCL based on clinical presentation, neuroimaging, biochemical measurements, and molecular analyses, at the department of pediatric metabolism between June 2015 and June 2020.RESULTS:A total of 14 patients were diagnosed with different types of NCL. Of those, 4 patients were diagnosed with NCL7 (4/14; 30%), 3/14 (23%) with NCL1, 3/14 (23%) with NCL2, 2/14 (14.2%) with NCL13, and 1/14 (7.1%) with NCL10. Eleven pathogenic variants were detected, 5 of which are novel (c.721G>T [p.Gly241Ter] and c.301G>C [p.Ala146Pro] in MFDS8 gene; c.316C>T [p.Gln106Ter] in PPT1 gene; c.341C>T [p.Ala114Val] in TPP1 gene; c.686A>T [p.Glu229Val] in CTSD gene) CONCLUSION: This study is one of the pioneer comprehensive researches from Turkey that provides information about disease-causing variants and clinical presentation of different and rare types of NCLs. The identification of novel variants and phenotypic expansion is important for genetic counselling in Turkey and expected to improve understanding of NCLs.

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.

Objectives Diagnostic process of mitochondrial disorders (MD) is challenging because of the clinical variability and genetic heterogeneity of these conditions. Next-Generation Sequencing (NGS) technology offers a high-throughput platform for nuclear MD. Methods We included 59 of 72 patients that undergone WES and targeted exome sequencing panel suspected to have potential PMDs. Patients who were included in the analysis considering the possible PMD were reviewed retrospectively and scored according to the Mitochondrial Disease Criteria Scale. Results Sixty-one percent of the patients were diagnosed with whole-exome sequencing (WES) (36/59) and 15% with targeted exome sequencing (TES) (9/59). Patients with MD-related gene defects were included in the mito group, patients without MD-related gene defects were included in the nonmito group, and patients in whom no etiological cause could be identified were included in the unknown etiology group. In 11 out of 36 patients diagnosed with WES, a TES panel was applied prior to WES. In 47 probands in 39 genes ( SURF1, SDHAF1, MTO1, FBXL4, SLC25A12, GLRX5, C19oRF12, NDUFAF6, DARS2, BOLA3, SLC19A3, SCO1, HIBCH, PDHA1, PDHAX, PC, ETFA, TRMU, TUFM, NDUFS6, WWOX, UBCD TREX1, ATL1, VAC14, GFAP, PLA2G6, TPRKB, ATP8A2, PEX13, IGHMBP2, LAMB2, LPIN1, GFPT1, CLN5, DOLK ) (20 mito group, 19 nonmito group) 59 variants (31 mito group, 18 nonmito group) were detected. Seven novel variants in the mito group ( SLC25A12, GLRX5, DARS2, SCO1, PC, ETFA, NDUFS6 ), nine novel variants in the nonmito group ( IVD, GCDH, COG4, VAC14, GFAP, PLA2G6, ATP8A2, PEX13, LPIN1 ) were detected. Conclusions We explored the feasibility of identifying pathogenic alleles using WES and TES in MD. Our results show that WES is the primary method of choice in the diagnosis of MD until at least all genes responsible for PMD are found and are highly effective in facilitating the diagnosis process.

Background and aim:The number of reports on the role of tubulin gene mutations (TUBA1A, TUBB2B, and TUBB3) in etiology of malformations of cortical development has peaked in recent years. We aimed to determine tubulin gene defects on a patient population with simple and complex malformations of cortical development, and investigate the relationship between tubulin gene mutations and disease phenotype.Materials and methods:We evaluated 47 patients with simple or complex malformations of cortical development, as determined by radiological examination, for demographic features, clinical findings and mutations on TUBA1A, TUBB2B, and TUBB3 genes.Results:According to the magnetic resonance imaging findings, 19 patients (40.5%) had simple malformations of cortical development and 28 (59.5%) patients had complex malformations of cortical development. Focal cortical dysplasia was the most common simple malformation, lissencephaly was the most common coexisting cortical malformation, and corpus callosum anomalies were the most common coexisting extracortical neurodevelopmental abnormalities. None of the patients had genetic alterations on TUBA1A, TUBB2B, and TUBB3 genes causing protein dysfunction. On the other hand, the frequencies of some polymorphisms were higher when compared to the literature.Conclusion:It is crucial to identify the etiology in patients with malformations of cortical development in order to provide appropriate genetic counseling and prenatal diagnosis. We consider that multicenter studies with higher patient numbers and also including other malformations of cortical development-related genes are required to determine underlying etiological factors of malformations of cortical development patients.

Introduction: Pompe disease (PD), glycogen storage disease Type II (GSD II), is an autosomal recessive inherited lysosomal storage disease caused by pathogenic variants in the GAA gene that encodes lysosomal acid α-glucosidadase (GAA) enzyme. The incidence of the disease varies from country to country. PD is mainly presents as two groups of phenotypes as infantile-onset Pompe disease (IOPD) and late-onset Pompe disease. Objective: The aim of this study is to discuss the molecular and clinical characteristics of infantile-onset Pompe disease (IOPD) and late-onset pompe disease (LOPD) followed-up in our center. Method: A total of 10 patients diagnosed with IOPD and 4 patients diagnosed with LOPD in Izmir Dr. Behcet Uz Pediatric Health and Diseases and Surgery Training and Research Hospital Pediatric Metabolism Unit between 06.01.2015 and 06.01. 2019 were included in the study. The patients’ demographic characteristics, clinical findings at the time of diagnosis and during the folllow-up period, biochemical findings, muscle biopsy data, results of enzymatic analyses and moleculargenetic characteristics were recorded retrospectively. Results: A total of 10 patients were included in the study. 7 patients were diagnosed with IOPD and 3 patients with LOPD. The median follow-up period of all patients was 26 months (range: 6-42 months). The c.896 C> T (8/32, 25%) is detected as the most common variant. 1237G>T (p.Asp413Tyr), c.2019 C>A (p.Asn673Lys), c.418A>T (p.Asn140Tyr) variants were detected for the first time. Conclusion: Pompe disease is one of the most important congenital metabolic diseases in which early diagnosis and treatment are of great importance. Despite the significant improvement in disease prognosis with the introduction of enzyme replacement therapy, there are still patients with poor prognosis despite early diagnosis. Phenotype-genotype studies are crucial in this respect.

Neuromyelitis optica is an inflammatory central nervous system syndrome associated with serum aquaporin-4 IgG antibody. Optic nerve and spinal cord involvement is typical. We report a 9-year-old girl with a diagnosis of neuromyelitis optica, who developed azathioprine-induced pancytopenia that was subsequently found to be caused by thiopurine-methyltransferase mutation.

This study used a descriptive, correlational, and cross-sectional research design to evaluate the effect of seizure self-efficacy of children with epilepsy on their perceived stigma of seizure. The study was conducted with 303 children with epilepsy. The data of the study were collected using "the Seizure Self-Efficacy Scale for Children" and "the Scale for Perceived Stigma in Children with Epilepsy". The mean age of the children included in the study was 12.65 ± 2.37. The correlation between seizure self-efficacy of the children and their perceived seizure stigma was examined; a strong, significant, and negative correlation was found. It is recommended that the awareness of all health professionals should be increased in approaching children with epilepsy and that self-efficacy and stigma should be addressed.

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.

Background: Asymtomatic santral nervous system disorder is frequently found in patients with diabetes. Neurophysiological tests were found to be objective and sensitive tool for detecting subclinical optic nerve and CNS disorders. Objectives: Our aim is to evaluate of the central nerve conduction changes using visual evoked potentials (VEP) and to demonstrate the effects of various risk factors on VEP parameters in children with type 1 diabetes mellitus (T1DM). Methods: Sixty children aged between 6 and 18 years and followed-up with a diagnosis of T1DM were enrolled in the study. Thirty healthy, age-matched children were enrolled as the control group. All patients and controls underwent the pattern reversal visual evoked potentials (PRVEP) test. Patients' HbAlc values, age, sex and duration of disease were evaluated from their hospital files. Results: Both right and left VEP latencies were significantly longer in the diabetic group than in the control group (P= 0.001 and P= 0.001, respectively). The mean duration of T1DM in the patient group was 5.5 years (min: 1 - max: 15). There was a positive correlation between longer VEP latency values and duration of DM, with coefficients of 0.49 for the right eye and 0.513 for the left eye (P < 0.001 and P < 0.001, respectively). Conclusions: We found that optic nerve conduction diminished significantly in children with T1DM. Visual evoked potential datas showed a significant prolongation of the latency of P-100 . We recommend that all diabetic children be scanned with neurophysiological tests such as PRVEP for optic neuropathy.

Background: Myelin Oligodendrocyte Glycoprotein (MOG) antibodies-related disease is mainly presented with acute disseminated encephalomyelitis (ADEM), recurrent optic neuritis, and neuromyelitis optica spectrum disorders (NMOSDs), however the complete clinical spectrum has not yet been defined. We describe an unusual presentation of MOG- related disease. A previously well 10-year-old girl admitted with a focal onset seizure. Neurological examination, electro-encephalography, and brain magnetic resonance imaging (MRI) were normal. Following seizure episode she developed gradually increased behavioral and personality changes during a period of 2.5 months. Neurological examination was unremarkable except for drowsiness and minimal ataxia on tandem walking. Repeated brain MRI revealed hazy and poorly demarcated lesions with gadolinium enhancement in the basal ganglia, supratentorial white matter, cerebral peduncles, cerebellum, and servical spinal cord. Cerebrospinal fluid analyses (CSF) revealed 10 lymphocytes /mu L, normal protein concentration and IgG index, and negative oligoclonal bands. Auto-antibodies against N-methyl-D-aspartate receptor and CASPR2 in CSF, and antibodies against aquaporin 4 in serum were negative. Analysis with a cell-based assay identified high serum titer of MOG antibodies (1:320). Following IVIG therapy, the patient showed complete clinical recovery within a week with no further relaps for the following 6-month period. Conclusion: Slowly progressive behavioral and personality changes following a seizure may be a manifestation of MOG-related disease in children.

Background: The ketogenic diet (KD) has been frequently used for the patientswith drug-resistant epilepsy in recent years. The management of these patients in emergency departments (EDs) has some difficulties due to the special needs of KD. We aimed to determine the characteristics and themanagement of the patients on the KD in the pediatric ED setting. Methods: Patientswhowere on the KD and admitted to the ED were included in the study. Demographic, clinical, and laboratory data of all patients were retrospectively reviewed and recorded. Results: Therewere 105 emergency admissions of 27 patients. Themedian age of all patientswas 55.0 (IQR: 29.091.0) months. The most common symptom was vomiting (43.8%). Four patients had upper gastrointestinal bleeding, and one patient had hyperammonemic acute hepatic failure while receiving KD. Of the patients, 41.9% had seizure-related ED admission. Infectionswere present in 41.9% of the ED visits. The frequency of status epilepticus was significantly lower in the patients who were on the KD for more than 6 months (p b 0.01). In 42.9% of all ED admissions, dextrose containing maintenance fluids was administered mistakenly; although ketosis rate was lower, no seizure was observed in this group. Conclusion: The patients on the KD can be admitted to EDswith intercurrent illnesses or adverse effects of the KD. For accurate management, emergency physicians must be aware of the common reasons for ED admission of these patients and the effects of the KD. (c) 2019 Elsevier Inc. All rights reserved.

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.

Objective: Retinopathy is the leading cause of morbidity in type 1 diabetes mellitus (T1DM), and subtle retinal subtle functional alterations can be detected via visual evoked potential (VEP) testing. The purpose of this study was to demonstrate correlation between metabolic control and VEP latency values in children with T1DM. Methods: Sixty children aged between 6 and 18 years and followed-up in the pediatric endocrinology department with a diagnosis of T1DM for at least one year were enrolled in the study. Thirty healthy, age-matched children were enrolled as the control group. All patients and controls underwent the pattern reversal VEP test based on the ISCVE 2016 revision protocol. Patients’ HbA1c values, age, sex and duration of disease were evaluated from their files. Results: Both right and left VEP latencies were significantly longer in the diabetic group than in the control group (p=0.001 and p=0.001, respectively). The mean duration of T1DM in the patient group was 5.5 years (min: 1, max: 15). There was a high positive correlation between longer VEP latency values and duration of DM, with coefficients of 0.49 for the right eye and 0.513 for the left eye (p<0.001 and p<0.001, respectively). Conclusion: VEP testing can detect retinopathy in the early stages and should form an essential component of annual eye examinations of children with T1DM.