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Introduction: Partial trisomy 6p is a rare chromosomal anomaly, characterized by low birth weight, developmental delay, craniofacial abnormalities, feeding difficulties, congenital heart defects, and renal abnormalities. Some of the partial trisomy 6p cases reported in the literature included partial monosomy of another chromosome. This is often due to the fact that one of the parents is a balanced translocation carrier, thereby making it difficult to determine the genotype-phenotype relationship. Pure partial trisomy 6p cases are even rarer and may occur as a result of a marker chromosome, tandem or inverted duplication, and interchromosomal insertion. Case Presentation: In this study, we evaluated the physical characteristics and genetic data of a 2-year-old girl with developmental delay and facial dysmorphic features. Dysmorphology assessment revealed the presence of a prominent forehead, short and narrow palpebral fissures, blepharoptosis, convex nasal ridge, hemangioma on the left eyelid, high-arched palate, retromicrognathia, and low-set ears. The patient’s G-banded karyotype was 46,XX,der(2)t(2;6)(q37.3;p22.1). Upon SNP-array analysis, aimed to determine the origin of the extra chromosomal material detected in chromosome 2 of the patient, there was a de novo 27.5-Mb duplication at 6p, arr[GRCh37] 6p25.3p22.1(204,909_27,835,272)×3, interpreted to be pathogenic. Conclusion: We present this case report to clarify the clinical findings of a rare chromosomal anomaly, discuss the genes that may be related to the phenotype and contribute to the literature in terms of knowledge regarding genotype-phenotype correlation.

Background Although the underlying genetic causes of intellectual disability (ID) continue to be rapidly identified, the biological pathways and processes that could be targets for a potential molecular therapy are not yet known. This study aimed to identify ID-related shared pathways and processes utilizing enrichment analyses. Method In this multicenter study, causative genes of patients with ID were used as input for Disease Ontology (DO), Gene Ontology (GO), and Kyoto Encyclopedia of Genes and Genomes enrichment analysis. Results Genetic test results of 720 patients from 27 centers were obtained. Patients with chromosomal deletion/duplication, non-ID genes, novel genes, and results with changes in more than one gene were excluded. A total of 558 patients with 341 different causative genes were included in the study. Pathway-based enrichment analysis of the ID-related genes via ClusterProfiler revealed 18 shared pathways, with lysine degradation and nicotine addiction being the most common. The most common of the 25 overrepresented DO terms was ID. The most frequently overrepresented GO biological process, cellular component, and molecular function terms were regulation of membrane potential, ion channel complex, and voltage-gated ion channel activity/voltage-gated channel activity, respectively. Conclusion Lysine degradation, nicotine addiction, and thyroid hormone signaling pathways are well-suited to be research areas for the discovery of new targeted therapies in ID patients.

The purpose of this study was to compare HMGB-1, TLR4, IL-1β, IL-1R1, and TNF-α levels in patients with mild and severe epilepsy with those in a healthy control group. Children aged 4-17 years, diagnosed with epilepsy for at least three years and with no progressive neurological disease, metabolic disease or infection, were selected for the study. The severe epilepsy group consisted of 28 children with at least one episode a week despite receiving three or more antiepileptic drugs. The mild epilepsy group consisted of 29 children with no seizures in the previous year, receiving only one antiepileptic drug, while 27 healthy children were selected as the control group. HMGB-1, TLR4, IL-1R1, TNF-α and IL-1β levels were investigated in these three groups. The MRI findings and clinical characteristics of the patients in the epilepsy group were also compared with these markers. HMGB-1, TLR4, TNF-α, and IL-1β levels in the severe epilepsy group were higher than in the control group and the mild epilepsy group (p

We aimed to determine the morphological and histological effects of zonisamide, sultiam, lacosamide, clobazam, and rufinamide on ovarian folliculogenesis in rats. Sixty female Wistar rats were divided into six experimental groups as control, zonisamide, sultiam, lacosamide, clobazam, and rufinamide groups; control solution and drugs were administered by gavage for 90 days. The number of healthy follicles in the control group was significantly higher than in the anti-medication groups (p 0.001), and the number of corpus luteum was significantly lower (p 0.001). There was a significant difference in the number of TUNEL positive apoptotic follicles between the control and drug groups (p 0.001). With EGF, IGF-1, and GDF-9 staining, a very strong immunoreaction was observed in the ovarian multilaminar primary follicle granulosa cells and oocytes in the control group compared to the drug group (p 0.001). Long-term anti-seizure medication with zonisamide, sultiam, lacosamide, clobazam, and rufinamide from prepubertal to adulthood causes apoptosis and disruption of folliculogenesis in the ovarian follicles of nonepileptic rats.

Objective: To evaluate the effectiveness and tolerability of clobazam therapy in the pediatric population in terms of seizure semiology, epileptic syndromes, and etiological subgroups. Methods: A retrospective cohort study was conducted consisting of 1710 epileptic children from eight centers in seven geographic regions of Turkey. The initial efficacy of clobazam therapy was evaluated after three months of treatment. The long-term effectiveness of the drug, overall seizure outcomes, and overall therapeutic outcomes were evaluated during 12 months of therapy. Results: Analysis of initial efficacy after the first three months of clobazam therapy showed that 320 (18.7 %) patients were seizure-free, 683 (39.9 %) had > 50 % seizure reductions, and 297 (17.4 %) had < 50 % seizure reductions. A positive response (seizure-free and >50 % seizure reduction) was determined for focal-onset (62.3 %) seizures, epileptic spasms (61.5 %), and generalized onset seisures (57.4). The highest positive response rate among the epileptıc syndromes was for self-limited epilepsy with centrotemporal spikes (SeLECTS). The highest negative response rate was for developmental and/or epileptic encephalopathies (DEEs). Magnetic resonance imaging (MRI) revealed a structural etiological diagnosis in 25.8 % of the cohort. A higher positive response rate was observed at MRI in patients with sequelae lesions than in those with congenital lesions. The seizure recurrence rate was higher in the patient group with epilepsy wıth genetic and metabolic causes, in individuals with more than one seizure type, and in those using three or more antiseizure drugs. Conclusions: This cohort study provides additional evidence that clobazam is an effective and well-tolerable drug with a high seizure-free rate (18.7 %), a significant seizure reduction rate (57.3 %), and with excellent overall therapeutic outcomes with a low seizure relapse rate and considerable reversible benefits in the pediatric population.

Purpose To examine the effects of the COVID-19 pandemic on the lifestyle, habits, and behavioral differences in children, and their changing internet use habits. Methods The research was planned as a cross-sectional study involving 4892 children aged 8 to 17 years attending schools in the city center of Trabzon, Turkey. Children’s daily living activities, social habits, mood and temperament changes, and internet use were investigated before and during the pandemic. In terms of problematic internet use, internet addiction rates were evaluated using the validated Turkish-language version of the Parent-Child Internet Addiction Scale (PCIAT-20). Results The children’s mean age was 13 ± 2.45 years, and 17.1% (n = 837) exhibited problematic internet use features on the PCIAT-20. Problematic internet use was higher in boys and in children older than 13 years. The presence of COVID-19 infection among members of the household, quarantine measures, attending private schools, the mother’s occupation, the time spent by the mother and father on their mobile phones, and high parental education levels were associated with a high level of internet addiction. Families also described significant changes in their children’s temperament and character compared with the pre-pandemic period. Conclusion The prevalence of problematic internet use increased during the COVID-19 pandemic compared with previous studies from Turkey. Children were also more introverted, irritable, and pessimistic during the pandemic.

Our aim was to perform the Turkish-language adaptation of a practical ataxia rating scale for children. The Brief Ataxia Rating Scale was subjected to cultural adaptation following receipt of the requisite permissions. Thirty-six children aged 4–18 years followed-up with a diagnosis of ataxia were included in the study. Evaluation of each child was recorded on video. The video recordings were scored independently by nine observers (four physiotherapists, one pediatric neurologist, and four pediatricians). Intra-rater reliability was tested by the same video images being scored twice, at 15-day intervals, by a pediatric neurologist. Intraclass correlation coefficients were used for inter-rater and intra-rater reliability. The Scale for the Assessment and Rating of Ataxia was used for concurrent validity. Good to excellent reliability was determined among the nine observers in terms of total scores with the intraclass correlation coefficient among the nine observers (intraclass correlation coefficient = 0.926; 95% CI: 0.885–0.956). Intra-rater reliability analysis results exhibited strong reliability in terms of scores elicited at two-week intervals (intraclass correlation coefficient = 0.967; 95% CI: 0.890–0.987, r = 0.97, p r = 0.942, p The Turkish-language adaptation of the Brief Ataxia Rating Scale is reliable and valid for application in children.Implications for RehabilitationThis study shows the reliability and validity of the Turkish language adaptation of brief ataxia rating scale in children.The scale being both practical and easily applicable to ataxic children will contribute to broadening its use in the pediatric age group in particular. This study shows the reliability and validity of the Turkish language adaptation of brief ataxia rating scale in children. The scale being both practical and easily applicable to ataxic children will contribute to broadening its use in the pediatric age group in particular.

International audience; ATP8A2-related disorders are autosomal recessive conditions that associate encephalopathy with or without hypotonia, psychomotor delay, abnormal movements, chorea, tremor, optic atrophy and cerebellar atrophy (CARMQ4). Through a multi-centric collaboration, we identified six point mutations (one splice site and five missense mutations) involving ATP8A2 in six individuals from five families. Two patients from one family with the homozygous p.Gly585Val mutation had a milder presentation without encephalopathy. Expression and functional studies of the missense mutations demonstrated that protein levels of four of the five missense variants were very low and lacked phosphatidylserine-activated ATPase activity. One variant p.Ile215Leu, however, expressed at normal levels and displayed phospholipid-activated ATPase activity similar to the non-mutated protein. We therefore expand for the first time the phenotype related to ATP8A2 mutations to less severe forms characterized by cerebellar ataxia without encephalopathy and suggest that ATP8A2 should be analyzed for all cases of syndromic or non-syndromic recessive or sporadic ataxia.

Aim: To investigate etiology and prognostic significance of pontine tegmentum lesions accompanying a cluster of acute flaccid myelitis. Method: We retrospectively examined patients from 6 centers in Turkey who manifested encephalitis or myelitis associated with dorsal pontine lesions on magnetic resonance imaging (MRI) between July 2018 and February 2019. Results: Twenty-two patients were evaluated. Ten of 22 (45%) presented with acute paralysis and 12 of 22 (55%) with brainstem symptoms only. Reverse transcription polymerase chain reaction for enterovirus was positive in 2 patients’ respiratory tract. Other etiologic factors were detected in 10 cases. On follow-up, patients presenting with symptoms of myelitis developed motor sequalae although spinal cord lesions on MRI resolved in 5 of 9 (55%). Encephalitic symptoms, present in 17 cases, recovered in 13 (76%), and brain MRI showed complete or near-complete resolution in 11 of 14 (78%). Conclusion: Various etiologic agents can be detected in patients with pontine involvement, even in a series collected during an outbreak of EV-D68. Encephalitis has a fair outcome but clinical recovery is slow and motor sequalae are frequent in spinal involvement, irrespective of follow-up spinal MRI findings.

Summary Background & aims This study was designed to assess clinical characteristics and nutritional status of pediatric outpatients with cerebral palsy (CP) and to determine prevalence of malnutrition based on physicians' clinical judgment and on anthropometric data in relation to percentile reference values. Methods A total of 1108 pediatric neurology outpatients (mean ± SEM age: 7.2 ± 0.1 years, 59.3% were males) diagnosed with CP were included in this cross-sectional, non-interventional multicenter single-visit study conducted between October 2015 and July 2016 at 20 centers across Turkey. Data on patient and CP characteristics, concomitant nonneuromotor impairments and gastrointestinal disorders as well as anthropometrics, outcome of nutritional status assessment (via physicians' clinical judgment and Gomez classification and Waterlow classification of anthropometric data) and physician's view on nutritional care in CP patients were collected at a single visit. Results The most common CP etiology was asphyxia (62.5%). The most common clinical category was spastic CP (87.5%) with quadriplegic (54.0%) topography and level V gross motor dysfunction (45.4%) in most of patients. The prevalence of malnutrition was considered to be 57.2% based on physicians' clinical judgment, while shown to be 94.3% (3rd degree in 86.7%) according to Gomez classification of Neyzi weight for age (WFA) percentiles and to be 91.3% (severe in 88.3%) according to Waterlow classification of Neyzi height for age (HFA) percentiles. Conclusions In conclusion, our findings revealed high prevalence of malnutrition, while also emphasize the likelihood of overestimation of malnutrition in children with CP when anthropometric assessment was based on use of growth charts for general pediatric population. This large-scale survey provided valuable data regarding nutritional assessment practice and malnutrition prevalence among children with CP in Turkey, which may be utilized for future proactive strategies in the prevention and treatment of malnutrition in this population.

Amac: Duchenne muskuler distrofisi DMD , X’e bagli olarak kalitilan bir muskuler distrofidir. Alt ekstremite proksimal kaslarinda baslayan gucsuzluk ile karekterizedir. Hayat kalitesinin yukseltilmesi ve sag kalimin uzatilmasi acisindan, ongorulen komplikasyonlarin tedavisi ve steroid tedavisi onemli olup, ailelere genetik danismanlik verilmelidir. Bu calismadaki amacimiz merkezimize basvuran hastalardaki klinik, labaratuvar, genetik spektrumu ortaya koymaktir.Hastalar ve Yontem: Calismada, Ocak 2013-Ocak 2018 arasinda cocuk norolojisi poliklinigimize basvuran 0–18 yas arasindaki DMD veya Becker muskuler distrofi BMD tanisi almis, tanisi genetik olarak dogrulanmis ve verileri yeterli olan olgular retrospektif olarak incelendi. Hastalarin, demografik, labaratuvar, norolojik muayene ve diger tetkikler genetik, organ disfonksiyonlarina yonelik degerlendirme ve eslik etmesi ongorulen patolojilerin multidisipliner yaklasimina yonelik bilgilere ait veriler elde edildi.Bulgular: Calismaya alinma kriterlerine uygun 24 hastanin verileri kaydedildi. Hastalarin ortalama yasi 89 ±59,75 ay idi. Hastalarin sikayetlerinin baslama yasi 34,50 ay ±14,77 ve teshis konulma yasi 43,08 ay ±29,83 idi. Baslica yakinma bulgulari arasinda, gec yurume, parmak ucu yurume, baldirlarda sertlesme, cabuk yorulma, merdiven cikmada gucsuzluk gelmekte idi. Bes hastanin %20,8 ise asemptomatik kreatin kinaz yukseklikleri dis merkezde ust solunum yolu enfeksiyonu tetkik edilir iken bakilan rastlantisal kreatin kinaz yukseklikleri seklinde idi. Hastalarin 7’sine elektromyografi cekilmis, bunlardan yalnizca 3 tanesinin sonucu miyopati ile uyumlu olarak gelmis, geri kalanlari ise normal olarak degerlendirilmistir. Tespit edilen, en sik delesyonlarin 46, 47 ve 51. ekzonlarda oldugu saptanmistir. Hastalarin yas gruplarinin homojen olmamasi kisitlilik olustursa da 46,47. ekzonlarda delesyonu olanlarin daha dusuk fonksiyonel kaba motor puanina sahip oldugu sonucuna ulasilmistir.Sonuc: Multidisipliner yaklasim hayat kalitesi bakimindan cok onemlidir. Ozellikle mutasyonlarin etkin bir sekilde taranmasi yeni tedavi seceneklerinin hastaya sunulmasi bakimindan onemlidir

Background The purpose of this prospective study was to identify the characteristics of pediatric recessive ataxias and the mutations leading to them. Methods Eighty-four pediatric patients aged 0–18 years presenting to our clinic, evaluated by means of imaging, metabolic or pathological investigation, or single-gene test, in whom Friedreich’s ataxia was excluded, and predicted to carry the progressive autosomal recessive ataxia gene were included in the study. Patients’ demographic, clinical, laboratory, and radiological characteristics were recorded. DNA and panel sequencing directed toward ataxia-related genes was performed using the next-generation sequencing method. Results A molecular diagnosis was established in 21 (25%) of the 84 patients. Genetically, infantile neuroaxonal dystrophy (7/21), ataxia with oculomotor apraxia type 1 (5/21), neuronal ceroid lipofuscinosis type 5 (2/21), ataxia with oculomotor apraxia type 2 (1/21), Lafora disease (1/21), tremor ataxia syndrome accompanying central hypomyelination (1/21), Charlevoix-Saguenay ataxia (1/21), Marinesco-Sjogren syndrome (1/21), VLDRL-associated cerebellar hypoplasia (1/21), and TSEN54-related pontocerebellar hypoplasia (1/21) mutations were detected. Conclusions Approximately 25% of our patients were diagnosed. Novel mutations in the known genes were identified and are important in terms of phenotype-genotype correlation.

Autosomal recessive cerebellar ataxias (ARCA) are characterized by the abnormal structure of the cerebellum and spinal cord. Spinocerebellar ataxia type 18 (MIM 616204), one of the ARCA, is caused by the loss-of-function mutations of the GRID2 gene due to deletions. Missense mutations in the GRID2 cause ataxia with the gain-of-function mechanism. We report a homozygous GRID2 duplication in childhood-onset ataxia in two siblings. The clinical exome sequencing was performed on one of the siblings. No disease-causing mutations were reported as a result of the clinical exome test. Chromosomal microarray analysis was performed on the entire family using Affymetrix Optima® chips. Chromosomal microarray analysis showed a ~ 121-kb homozygous duplication of GRID2 (arr[GRCh37]4q22.2(94426536_94613158) × 4), including exon 14, in both siblings. Previously, GRID2 has been associated with an autosomal recessive (loss-of-function) and autosomal semi-dominant (gain-of-function) forms of ataxia. To the best of our knowledge, this is the first study to identify a homozygous duplication of GRID2 causing loss of function of the GluRD2 protein. These findings provide us with the conclusion that copy number variation analyses should be in the diagnostic process of autosomal recessive ataxia types.

Background: Ischemic brain damage can be explained by the emergence of acute focal or global neurological findings caused by vascular occlusions or hemorrhages. Even in non-fatal cases, stroke is an important pathologic condition with a severe impact on the quality of life, and patients require considerable assistance in the daily lives. Objectives: The purpose of this study was to investigate the effect of rifampicin on malondialdehyde (MDA) levels and neurological examination of the hippocampal region in rats with transient cerebral ischemia. Methods: This experimental study has been performed in a university-affiliated animal lab, Trabzon, Turkey, in 2016. Thirty-eight Sprague Dawley rats weighing 220 - 280 g were used. In this two-vessel occlusion and hypotension ischemia-reperfusion model, the bilateral carotid arteries were temporarily clipped (30 minutes), and blood was withdrawn up to 3 mL of intracardiac volume before the induction of hypotension. After 30 minutes, the clips were removed, and a reperfusion medium was created. One group of 12 rats received intraperitoneal injections of 30 mg/kg of rifampicin every day, and after a 30-minute bilateral carotid artery clipping and hypotension (10 mL/kg). Another group of 12 rats underwent a 30-minute bilateral carotid artery clipping and hypotension (10 mL/kg). The third group consisting of 7 rats underwent skin laceration only. The final group of 7 rats received anesthesia for only 15 minutes. Neurological examinations were performed at the end of days 1, 4, 7, and 10 in all groups. At the end of the 10th day, the animals were euthanized, and their brain tissues were removed. The hippocampi were removed from the brains for biochemical analysis and stored at -76°C in a deep freeze. Ischemic changes in the brain were assessed biochemically by measuring MDA levels in both blood and brain tissue. Results: There was no statistically significant difference between the groups in terms of the mean tissue MDA levels (P = 0.112), but a significant difference was determined in the mean serum MDA values (P = 0.033). Serum MDA values significantly differed between the Group 1 and Group 2 (P = 0.030), but not between Group 1 and Group 3 (P = 0.58). Serum MDA values were also significantly different between Group 2 and Group 3 (P = 0.019), and between Group 2 and Group 4 (P = 0.035). Conclusions: Rifampicin could exhibit a neuroprotective effect on cerebral ischemia-reperfusion injury.

WOS: 000484374500013, Vitamin B12 is one of the essential vitamins that affect various systems in the body, including the central nervous system. Vitamin B12 plays an important part in the metabolism of the nervous system, although its exact role under pathological conditions is not fully understood. The purpose of this study was to emphasize the importance of early diagnosis of vitamin B12 deficiency in the light of the characteristics of the patients enrolled. This retrospective, clinical study included 38 children with neurological symptoms of vitamin B12 deficiency. Records of 38 patients referred to a single center of the university hospital outpatient child neurology clinic due to neurological symptoms of vitamin B12 deficiency between February 2012 and December 2013 were evaluated retrospectively. Patients aged 0-18 years with symptoms including syncope, dizziness, convulsion, hypotonia, developmental retardation, tremor, ataxia, tingling sensations and paresthesia, blurring of vision, fatigue and concentration difficulty caused by vitamin B12 deficiency were included in the study. Patient neurological findings included syncope (n=6), dizziness (n=4), hypotonia (n=9), inability to sit or walk without support, or gait ataxia (n=2), convulsion (n=4), hand tremor (n=1), tingling sensations and paresthesia (n=3), vision blurring (n=1), fatigue and concentration difficulty (n=8). All patients with neurological symptoms of vitamin B12 deficiency recovered within one month after vitamin B12 supplementation. In conclusion, clinical characteristics of vitamin B12 deficiency are broad and nonspecific and may not be associated with anemia and increased mean corpuscular volume. Since different clinical characteristics can be seen without anemia, awareness and cautious approach are essential in order to avoid severe clinical disease, especially in children from underdeveloped countries.

GİRİŞ ve AMAÇ: Çocuklarda, dikkat eksikliği ve hiperaktivite bozukluğu (DEHB) epilepsiyesıklıkla eşlik etmektedir. Bu birlikteliğin nedenleri konusundaki görüşlerfarklıdır. Epilepsiden önce veya sonra gelişen DEHB’de, epilepsi özelliklerininetkisi çalışılmamıştır. Bu çalışmada, DEHB ve epilepsi birlikteliği gösterençocukların verileri, bu ilişkiye yönelik ipuçları elde etmek amacıylaincelenmiştir.YÖNTEM ve GEREÇLER: Çocuk Nörolojisi polikliniğine ardışık olarak başvuran, epilepsi ve DEHBbirlikteliği gösteren 44 hastanın (33 erkek, 11 kız) verileri geriye dönükolarak incelendi. Çeşitli özelliklere göre ikili alt gruplarda istatistikselkarşılaştırma yapıldı.BULGULAR: DEHB 11hastada (%25) epilepsi bulguları öncesinde, 33 hastada (%75) ise epilepsisonrasında tanılanmıştı. Hastaların yaş ortalaması 11,5±2,7, ilk nöbet yaşları5,2±3, son nöbet yaşı 9,5±2,8, antiepileptik başlama yaşı 6,6±3,4, DEHB tanıyaşı 8,4±2 yıldı. Epilepsi sonrasında DEHB tanılananlarda, antiepileptiktedavinin başlangıç yaşı ve ilk nöbet yaşı daha küçüktü (sırasıyla, p=0,004 vep=0,002). İki gruptaki cinsiyet dağılımı, epilepsi tipi, DEHB tanı yaşı,elektroensefalografi ve beyin manyetik rezonans görüntüleme bulguları benzerdi.Epilepsi ve DEHB tanıları arasındaki sürenin anlamlı olarak kısa olduğuhastalar; ilk nöbet yaşı >5 ve antiepileptik başlama yaşı >6,5 yaşolanlardı (sırasıyla, p=0,013, p=0,000). Epilepsi ve DEHB tanıları arasındakisüre 1,5 yıldan uzun olanlarda, EEG anormalliği daha sıktı (p=0,044). Son nöbetve AEİ başlama yaşları; DEHB tanı yaşı ile pozitif korelasyon gösterdi(r=0,389, r=0,434, p, INTRODUCTION: Epilepsy isoften accompanied by attention deficit hyperactivity disorder (ADHD). There aredifferent opinions about reasons. The effect of epilepsy features was notstudied in ADHD before or after epilepsy. We aimed to obtain clues about thiscomorbidity in children.METHODS: Data of forty-four (33males, 11 girls) consecutive epilepsy patients with ADHD were retrospectivelyreviewed. The binary subgroups were statistically compared.RESULTS: ADHD wasdiagnosed before epilepsy in 11 (25%) and after epilepsy in 33 (75%) patients.The mean age was 11.5±2.7, the first and last seizure ages were 5.2±3 and9.5±2.8, antiepileptic drug (AED) starting and ADHD ages were 6.6±3.4 and 8.4±2years respectively. In patients with ADHD after epilepsy, AED and first seizureages were younger (p=0.004 and p=0.002, respectively). Gender, epilepsy type,ADHD age, electroencephalography and brain magnetic resonance imaging findingswere similar. There was a shorter interval time between ADHD and epilepsy inpatients with a first seizure age >5 and AED age >6.5 years (p=0.013 andp=0.000). EEG abnormalities were more frequent in patients with >1.5 yearstime interval between epilepsy and ADHD (p=0.044). The ages of last seizure andAED starting ages were positively correlated with ADHD age (r=0.389, r=0.434,p

Objective: Since antiepileptic drug use is long-term, it may be important to know their effects on blood cell counts during the management of these patients. However, these effects have not been adequately evaluated in epileptic children. In our study, the effects of valproate, levetiracetam and carbamazepine on complete blood counts were assessed in children. MaterialandMethods: Material and methods: Consecutive epilepsy patients under monotherapy were reviewed retrospectively. Eighty patients, whose data were available before the treatment and at 2-6 months and 9-16 months after treatment initiation were included in the study. The ages at the start of the treatment were taken into consideration. Hemoglobin, hematocrit, erythrocyte, platelet and leucocyte counts, leukocyte subset percentages and the mean volume and distribution width of the erythrocytes and thrombocytes were recorded.Results:There were no statistically significant differences between the levels at pre-treatment and at 2-6 and 9-16 months after treatment initiation in the patients treated with levetiracetam (n=25) and carbamazepine (n=20). In the valproate group (n=35), there was an increase in mean corpuscular volume and monocyte percentage, and a decrease in platelet counts, in the first six months (p=0.015, p=0.001, p=0.005, respectively). At 9-16 months, the lymphocyte percentage increased while the neutrophil and eosinophil percentages decreased (p=0.016, p=0.014, p=0.01, respectively) in this group.Conclusion: In our study, valproate caused an increase in the percentage of lympho-monocytes and mean corpuscular volume, and a decrease in the platelet count, neutrophil and eosinophil percentages. These effects seem to be related to the fact that valproate is a histone deacetylase inhibitor., Amaç: Antiepileptik ilaçların kan hücreleri üzerine etkilerinin bilinmesi, uzun süreli kullanımları nedeniyle hastaların izleminde önemlidir. Bu etkiler, epilepsili çocuklarda yeterince değerlendirilmemiştir. Çalışmamızda; valproat, levetirasetam ve karbamazepin tedavisi alan epilepsili çocukların tam kan sayım üzerine, tedavinin etkileri incelenmiştir. GereçveYöntemler: Çocuk Nörolojisi polikliniğine ardışık olarak başvuran, idiopatik epilepsi nedeniyle tekli antiepileptik ilaç kullanan hastalar, geriye dönük olarak incelendi. Tedavi öncesi, tedaviden sonraki 2-6 ay ve 9-16 aydaki tam kan sayımı verileri olan 80 hasta çalışmaya alındı. Hastaların tedavi başlangıcındaki yaşları dikkate alındı. Hemoglobin, hematokrit, eritrosit, trombosit, lökosit sayıları, lökosit alt tip (lenfosit, nötrofil, monosit, eozinofil) oranları, eritrosit ve trombositlerin ortalama hacmi ve dağılım genişliği kaydedildi. Bulgular: Levetirasetam (25 hasta) ve karbamazepin (20 hasta) grubundaki hastaların, tedaviden 2-6 ay ve 9-16 ay sonrası değerleri ile tedavi öncesi değerleri arasında istatistiksel fark saptanmadı (p>0.05). Valproat (35 hasta) grubunda ise ilk 6 ayda, ortalama eritrosit hacmi ve monosit yüzdesinde artış, trombosit sayısında azalma saptandı (sırasıyla, p=0.015, p=0.001 ve p=0.005). Tedavinin 9-16 aylık döneminde, ek olarak, lenfosit oranında artış, nötrofil ve eozinofil oranında azalma vardı (sırasıyla, p=0.016, p=0.014 ve p=0.01).Sonuç:Çalışmamızda, valproat tedavisinin, lenfomonositer hücre oranı ve ortalama eritrosit hacminde artışa; trombosit sayısı, nötrofil ve eozinofil oranında azalmaya neden olduğu saptanmıştır. Valproat tedavisiyle ortaya çıkan bu etkiler, histon deasetilaz inhibitörü olmasıyla ilişkili görünmektedir.

WOS: 000456751500018 PubMed: 30584976 Objectives: The hippocampus is susceptible to damage in patients with epilepsy and in animals with seizures caused by excitotoxic agents. The effect of vitamin D on hippocampal apoptosis related with seizures has not been reported. However, epileptic patients have an increased risk of hypovitaminosis D which is most likely due to the effects of antiepileptic drugs. Therefore, in this study, it was aimed to evaluate the effects of vitamin D on hippocampal apoptosis related with seizures by using pentylenetetrazol (PTZ) and kainic acid (KA) in rats. Methods: Male Sprague Dawley rats, aged 5.5 weeks, were randomly divided into six groups: control, vitamin D, PTZ, KA, PTZ + vitamin D and KA + vitamin D groups. The groups that received vitamin D were given 500 IU/kg of vitamin D daily for two weeks in addition to a standard diet. At the end of this period, PTZ and KA were applied to trigger seizures in the rats in the seizure groups. 24 h after the administration of PTZ and KA, the rats were decapitated. In the hippocampal region, apoptosis was assessed by TUNEL and brain-derived neurotrophic factor (BDNF), Bax, caspase-3 and c-fos activation were evaluated by immunohistochemical method. Results: BDNF level increased while c-fos, Bax and caspase-3 levels decreased (p < 0.0001, in all) in the hippocampal neurons of the groups that were pre-treated with vitamin D before the administration of PTZ and KA, in comparison with the PTZ and KA groups. Vitamin D significantly decreased the number of apoptotic cells in these rats in comparison with the PTZ and KA groups (p < 0.0001). Conclusion: This study indicates that vitamin D has neuroprotective effects on hippocampal apoptosis induced by PTZ and KA in rats. With this study it is suggested that keeping vitamin D levels within normal limits may be beneficial for patients with epilepsy, especially children. Research Fund of the Karadeniz Technical University [5384] This study was financially supported by Research Fund of the Karadeniz Technical University (Project Number: 5384).

To investigate the potential toxic effects of levetiracetam monotherapy on ocular tissues in cases of pediatric epilepsy using optical coherence tomography (OCT). Thirty epileptic children (group 1) receiving levetiracetam monotherapy at a dosage of 20–40 mg/kg/day for at least 1 year with a first diagnosis of epilepsy and 30 age- and gender-matched healthy children (group 2) were included in the study. In addition to a detailed eye examination, peripapillary retinal nerve fiber layer (RNFL) thickness, ganglion cell complex (GCC) thickness, foveal thickness (FT), and central corneal thickness (CCT) were measured in all children by means of spectral domain OCT. The data obtained from the two groups were then subjected to statistical analysis. The mean age of both groups was 12 ± 3.64 years [1–12]. The mean duration of levetiracetam in group 1 was 24.07 ± 12.82 months. Mean RNFL values in groups 1 and 2 were 106.1 ± 10.42 and 104.98 ± 10.04 μm, mean GCC values were 94.72 ± 6.26 and 94.4 ± 6 μm, mean FT values were 240.73 ± 17.94 and 240.77 ± 15.97 μm, and mean CCT values were 555.1 ± 44.88 and 540.97 ± 32.65 μm, respectively. No significant difference was determined between the two groups in terms of any parameter. Best corrected visual acuity values of the subjects in both groups were 10/10, and no color vision or visual field deficit was determined. Levetiracetam monotherapy causes no significant function or morphological change in ocular tissues in pediatric epilepsies.

Background The goal of this study was to explore the changes in serum antiepileptic drug levels and their relation with sex steroid levels during the menstrual cycles of adolescent girls. In addition, valproate and levetiracetam were compared in terms of their effects on body mass index, ovulation, and sex steroid levels. Methods Adolescent girls using valproate (n = 16) and levetiracetam (n = 9) were included in the study. Serum antiepileptic drug, progesterone, and estradiol levels were analyzed in two periods, when the levels of sex hormones might be the highest (midluteal phase) and the lowest (early follicular phase). Results Serum antiepileptic drug levels were not significantly different between the two periods in both antiepileptic drug groups. Serum antiepileptic drug levels during menstruation increased in 69.2% of the valproate group, whereas they decreased in 88.9% of the levetiracetam group ( P = 0.011). A positive correlation between serum valproate and progesterone levels ( r = 0.767, P = 0.001) and between levetiracetam and estradiol levels ( r = 0.259, P > 0.05) was present in the menstrual phase. Body mass index, body mass index percentile, z score, and ovulation rates were not different between the two groups. Conclusions This study indicates a strong correlation between valproate and progesterone levels in the early follicular phase of the menstrual cycle. The findings of this study also suggest that valproate and levetiracetam have different relationships with sex steroid levels, during menstrual cycle. Especially in catamenial seizures, taking this interaction into account may be beneficial.

WOS: 000450087200005 PubMed: 28328695 Methylphenidate is a stimulant drug commonly prescribed to individuals with attention-deficit/hyperactivity disorder. The suggested underlying mechanism of acute dyskinesias is dopaminergic transmission increase. We describe a 9-year-old boy with a diagnosis of attention-deficit/hyperactivity disorder admitted to emergency clinic with primarily orofacial and extremity dyskinesia after administration of a first dose of 18 mg OROS (osmotic [controlled] release oral) methylphenidate (Concerta). OROS methylphenidate was discontinued, and the patient's symptoms resolved within 20 minutes after injection of biperiden by intravenous route (0.04 mg/kg). We wish to emphasize that acute orofacial dyskinesia and extremity dyskinesia can be observed during methylphenidate therapy and that biperiden can be successfully used in the treatment of this unpleasant condition. To the best of our knowledge, this is the first report of the use of biperiden therapy in this condition. This case report highlights the importance for physicians of awareness of dyskinesia as a potential adverse effect of methylphenidate therapy and indicates benefit of biperiden therapy.

Hereditary ataxias are a group of genetic disorders that are progressive and heterogeneous. The purpose of this study was to develop a practical and time-efficient approach to diagnosing childhood hereditary ataxias by analyzing characteristics and final diagnosis at a tertiary referral clinic for pediatric neurology. 196 patients admitted to the pediatric neurology department were included. The medical records were examined for demographic features, neurological, laboratory, electrophysiological, cranial imaging, and pathological findings, and for genetic studies. Patients were divided into two groups based on whether a final diagnosis was made. The undiagnosed and diagnosed groups consisted of 157 (81.1%) and 39 (19.9%) patients, respectively. The two groups differed in terms of levels of history of consanguineous marriage and mental and motor development before diagnosis, absence of deep tendon reflexes, and the presence of polyneuropathic changes detected by electromyelography (EMG), abnormal visual evoked potentials (VEPs), electroretinography (ERG), and muscle biopsy. To the best of our knowledge, this is the first study involving a large spectrum of diseases related to autosomal recessive ataxias in childhood in Turkey. One out of five patients with hereditary childhood ataxias can be diagnosed with clinical and laboratory and electrodiagnostic examination, especially with the help of imaging facilities, while genetic analysis is not possible for every child. Cranial magnetic resonance imaging followed by EMG provides the most important clues for the diagnosis of hereditary childhood ataxias.

PubMedID: 28694135 Objective To document the clinical and paraclinical features of pediatric multiple sclerosis (MS) in Turkey. Methods Data of MS patients with onset before age 18 years (n = 193) were collected from 27 pediatric neurology centers throughout Turkey. Earlier-onset (

Introduction: Fluid intake was reported to reduce migraine attacks. This may be due to its effect on hemoconcentration. Hemoconcentration may manifest itself by increasing in the hemoglobin and platelet-related values. This study aimed to reveal hemoconcentration by evaluating complete blood cell counts in attack-free periods of pediatric patients with migraine. Materials and Methods: Consecutive children with migraine (n = 70) and tension-type headache (TTH) (n = 65) were compared with the control groups. Control 1 (n = 70) and control 2 (n = 60) groups consisted of age- and gender-matched patients, respectively. Control 2 group patients had gastrointestinal symptoms leading to fluid loss, which may have caused hemoconcentration. To evaluate hemoglobin and platelets together, the M1-value was created by multiplying hemoglobin level by plateletcrit. Results: The M1-value was higher in the migraine group than in control 1 and TTH groups (P = 0.017 and 0.034) and the hemoglobin and hematocrit levels were also higher in the migraine group than in control 2 group (P = 0.013 and 0.012). Female patients with migraine had higher hemoglobin levels as compared to the female patients in control group 1 (P = 0.041). Male patients with migraine had higher M1-values than the male patients in control group 1 (P = 0.034). In the subgroup of migraine with aura (n = 10), folic acid was significantly lower than the other patients with migraine (P = 0.02). Conclusion: This study suggests that migraine may be accompanied with hemoconcentration in children.

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by café-au-lait spots, neurofibromas, skinfold freckles, Lisch nodules, bone deformities, learning disabilities, and predisposition to neoplasms. It is caused by various mutations of the NF1 gene. Recently a 3-bp in-frame deletion in exon 17, c.2970-2972 delAAT mutation, has been associated with a milder phenotype of NF1 manifesting with pigmentary skin changes only.We therefore analyzed 35 NF1 patients without neurofibromas, learning problems, or bone lesions (19 familial, 16 sporadic, age 7-44 years) for exon 17 mutations by DNA sequencing.We did not find the c.2970-2972 delAAT mutation in this group but identified two base changes in exon 17 (c.2989AG and c.2894TA), whether these two novel mutations are related to a mild phenotype remains to be confirmed in further studies. Our results suggest the reported phenotypic associations may not be valid for all populations.

Background Wernicke encephalopathy is rare in children and is caused by thiamine deficiency. It is characterized by acute or subacute ataxia, altered consciousness, and ophthalmoparesis. Gastroenterological surgery, total parenteral nutrition for short bowel syndrome, and alcoholism are common risk factors for Wernicke encephalopathy. Typical magnetic resonance imaging features include selective symmetrical signal changes in the mammillary bodies, medial thalamus, tectum, periaqueductal region, cranial nerves, cerebellum, red nucleus, dentate nucleus, fornix, splenium, cerebral cortex, and putamen. If left undiagnosed and untreated, the disease may be fatal. Patient Description We describe a 13-year-old boy who developed acute cerebellar findings while receiving total parenteral nutrition after gastroduodenostomy for duodenal stenosis. Results The diagnosis of Wernicke encephalopathy was based on his clinical history, neurological examination, and imaging results. We immediately started intravenous thiamine replacement therapy. Two weeks later, the patient's clinical signs had resolved except for mild clumsiness, which was observed during his tandem gait examination. Conclusion Our report emphasizes the importance of clinical and magnetic resonance imaging pattern recognition in timely diagnosis, as well as the importance of prompt thiamine replacement therapy. We also demonstrate the importance of thiamine supplementation during total parenteral nutrition after gastrointestinal surgery.

INTRODUCTION Sudden unexpected death in epilepsy (SUDEP) is defined as the sudden, unexpected, witnessed or unwitnessed, non-traumatic, and non-drowning death of patients with epilepsy with or without evidence of a seizure, excluding documented status epilepticus, and in whom postmortem examinations do not reveal a toxicological or anatomic cause for death. In this study, data on patients who passed away under observation in the epilepsy clinic due to sudden, unexpected death have been compiled, and we also aim to emphasize the importance of SUDEP in Turkey. METHODS This study was performed with a total of nine cases. Data were obtained from hospital records, information given by the families of patients, the database of the General Directorate for Civil Services of the Ministry of Internal Affairs of Turkey, and from the Ankara Metropolitan Municipality Cemetery Information System. As the basis of classification and definition, the proposals suggested by Nashef et al., which were made to the International League Against Epilepsy (ILAE) in 2011, were taken into consideration. RESULTS Eight of the patients were classified as probable SUDEP and one of them as possible SUDEP; the mean age at SUDEP was 33 years, and the average follow-up period was 19.7 years. In these cases, except for known risk factors (generalized tonic-clonic seizures, nocturnal seizures, severe epilepsy, more frequent seizures, younger age at the onset of epilepsy, unwitnessed seizures, polytherapy, and mental handicap), a different risk factor was not identified. CONCLUSION This study is the first case series on SUDEP in Turkey. Postmortem studies are the most important shortcoming of the study. However, the importance of the topic is highlighted by presenting the available data. SUDEP deserves more attention during the daily practice of neurologists, pediatric neurologists, forensic physicians, and family physicians. If death is sudden and unexpected in a patient with epilepsy, SUDEP should be considered, regardless of the clear causes of death.

Purpose Infantile spasm is an age-dependent epileptic syndrome seen in infancy or early childhood. Although studies have investigated the epilepsy–cytokine relationship, there has been insufficient research into the relation between cytokines and infantile spasm. The purpose of this study was to examine the role of cytokines in the pathogenesis of infantile spasm by investigating cytokine levels before and 1month after adrenocorticotropic hormone (ACTH) therapy in patients diagnosed with the condition. Method Twenty patients aged between 1month and 2years and diagnosed with infantile spasm at the Karadeniz Technical University Medical Faculty Department of Child Health and Diseases Pediatric Neurology Clinic, Turkey, and 20 healthy children were included in the study. Patients received 11 doses of ACTH on 2days a week. Levels of TNF-alpha and IL-2, the main cytokines involved in inflammation and recently associated with infantile spasm, and of IL-1beta, IL-6 and IL-17A, associated with epileptic seizures, and serum levels of the IL-17A activator IL-23 were investigated in all patients at the start of treatment and 1month after completion of treatment. Results No statistically significant difference was observed between pre- and post-treatment patient group and control group IL-1beta, IL-2, IL-23 or TNF-alpha levels. Pre-treatment IL-6 and IL-17A levels were significantly higher in the untreated patient group compared to the healthy control group ( p p =0.002). Conclusion Our study supports the recent idea that IL-6 and IL-17A are cytokines involved in the pathogenesis of infantile spasm.

Although drug-related acute dystonic reaction is one of the known side-effects of haloperidol therapy, the number of cases reported, particularly in children, is quite low. This report discusses a case of a male child developing acute dystonic reaction, and nearly drowning, while swimming in the sea following inappropriate use of haloperidol he was taking for tic disorder. The purpose of this report is to draw attention to acute dystonic reaction that may occur, not only at times when this drug, which enjoys wide pediatric use, is started or the dosage is increased, but also due to misuse by families.

WOS: 000366153000026 PubMed: 26617155 Cerebral venous sinus thrombosis with internal jugular vein thrombosis is not reported as a complication in nephrotic syndrome. We report a 40-year-old male with nephrotic syndrome, who had headache during his hospitalization. Conventional diagnostic tests showed extensive thrombosis at the proximal part of superior sagittal sinus, left cortical vein, left sigmoid-transverse sinus and left internal jugular vein. The patient underwent medical treatment and was discharged in good health after 2 weeks. The aim of this study is to report a novel case of cerebral venous sinus thrombosis with internal jugular venous thrombosis in a male patient with nephrotic syndrome.

International audience; Ataxia is a symptom that is often associated with syndromic inherited diseases. We previously reported the linkage of a novel syndrome, ataxia with blindness and deafness (SCAR3/SCABD, OMIM# 271250), to chromosome 6p21-p23 by linkage mapping of an Arab Israeli consanguineous family. We have now identified by whole-exome sequencing a homozygous missense mutation in the Arab Israeli family in the SLC52A2 gene located in 8qter, therefore excluding linkage of this family to 6p. We confirmed the involvement of SLC52A2 by the identification of a second mutation in an independent family with an identical syndromic presentation, which we suggest to name SCABD2. SCABD2 is therefore allelic to Brown-Vialleto-Van Laere syndrome type 2 defined by prominent motoneuronopathy and deafness, and also caused by SLC52A2 mutations. In the course of this project, we identified a clinically similar family with a homozygous missense mutation in PEX6, which is located in 6p21. Therefore, despite false linkage in the initial family, SCABD1/SCAR3 is located in 6p21 and is caused by PEX6 mutations. Both SLC52A2 and PEX6 should be included in screening panels for the diagnosis of syndromic inherited ataxias, particularly as patients with mutations in SLC52A2 can be ameliorated by riboflavin supplementation.

Neurocutaneous melanosis is a rare congenital disorder which presents with congenital cutaneous nevi and involvement of the central nervous system. We herein present a rare case of a 2-year-old girl who had central nervous system melanosis and giant congenital melanocytic nevi. Magnetic resonance imaging, especially precontrast T1 images play a crucial role in making the diagnosis combined with the skin findings of physical examination.