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Background The coronavirus disease 2019 pandemic was caused by the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Although the predominant clinical presentation is a respiratory disease, neurological manifestations are being recognized increasingly. Case report We report 2 children aged 9 years old who developed acute disseminated encephalomyelitis-like disease associated with SARS-CoV-2. Seizures and encephalopathy were the main central nervous system symptoms. The cerebrospinal fluid analysis performed within the first week of disease onset showed elevated protein in both children with normal cell count and no evidence of infection including negative SARS-CoV-2 by antibody and polymerase chain reaction. Brain magnetic resonance imaging revealed T2A, fluid-attenuated inversion recovery cortical and subcortical hyperintensity without restricted diffusion consistent with acute disseminated encephalomyelitis-like disease. They received methylprednisolone followed by therapeutic plasma exchange. One of them showed complete clinical improvement and resolution in magnetic resonance imaging findings. The other developed laminar necrosis in brain magnetic resonance imaging and showed significant clinical improvement after therapeutic plasma exchange. He was positive for positive SARS-CoV-2 antibody in cerebrospinal fluid on day 55 of admission. They were both positive for SARS-CoV-2 antibodies in serum after 2 weeks. Conclusions Our two cases highlight the occurrence of acute disseminated encephalomyelitis-like disease as a postinfectious/immune-mediated complication of SARS-CoV-2 infection.

Aim The prevalence of congenital cerebral palsy (CP) worldwide ranges from 0.15 to 0.4%. CP causes several gastrointestinal complications that inhibit normal eating behavior. This single-center observational study aimed to determine the tolerability and benefits of percutaneous endoscopic gastrostomy (PEG) in pediatric CP patients with malnutrition. Materials and Methods The study included 41 pediatric CP patients with malnutrition. All patient data were retrospectively obtained from Bakırköy Dr. Sadi Konuk Research and Training Hospital, Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Istanbul, Turkey. In addition to baseline measurements of weight, height, triceps skinfold thickness, 1,25-hydroxyvitamin D3, folate, iron, zinc, vitamin B12, hemoglobin, and mean corpuscular volume, data analyzed included follow-up measurements recorded at 3 and 6 months of PEG (standard polymeric enteral supplementation as 1.0 kcal mL–1). Results There was significant improvement in both height, weight, and triceps skinfold thickness in all patients at 3 and 6 months of PEG (p Conclusion PEG significantly improves malnutrition in pediatric CP patients and does not cause any major complications. Based on these findings, we think PEG is a beneficial and cost-effective intervention with a high rate of tolerability in pediatric CP patients with malnutrition.

Amac: Duchenne muskuler distrofi (DMD), DMD genindeki mutasyonlarin neden oldugu ilerleyici kas gucsuzlugu ile seyreden bir hastaliktir. Bu calismada, DMD tanili cocuklarda DMD genindeki farkli mutasyonlar ile motor fonksiyonlar arasindaki iliskiyi incelemeyi amacladik. Yontem: Ocak 2016 ile Ocak 2018 tarihleri arasinda DMD tanisi ile takip edilen, yuruyebilen ve ek hastaligi olmayan cocuklar calismaya dahil edildi. Demografik veriler, genetik mutasyon sonuclari, steroid kullanim sureleri ve 6 dakika yurume testi sonuclari kaydedildi. Cocuklar DMD genindeki mutasyona gore delesyon, duplikasyon ve nokta mutasyona sahip olanlar olarak 3 gruba ayrildi. Uc grup arasinda 6 dakika yurume testi sonuclari karsilastirildi. Bulgular: DMD tanili 33 erkek hasta calismaya dahil edildi, ortalama yaslari 6,7 ± 2 yildi (4-11 yil). Yirmi iki hastada (%67) delesyon, 6 hastada (%18) duplikasyon, 5 hastada (%15) nokta mutasyon mevcuttu. Steroid tedavisi alan 18 hastanin ortalama steroid kullanma suresi 1,6 ± 0,8 yildi (0,5-3 yil). Uc grup arasinda yas ve steroid kullanim sureleri acisindan anlamli farklilik saptanmadi (p> 0,05). DMD geninde delesyon, duplikasyon ve nokta mutasyon saptananlarin ortalama 6 dakika yurume mesafesi sirasiyla 324 ± 51 metre (220-427 metre), 326 ± 77 metre (264-440 metre) ve 285 ± 38 metreydi (250-326 metre). Alti dakika yurume testi acisindan nokta mutasyon saptanan hastalarda delesyon ve duplikasyon saptanan hastalara gore yurume mesafesi daha kisa olmakla birlikte istatiksel olarak 3 grup arasinda anlamli farklilik saptanmadi (p> 0,05). Sonuc: DMD tanili cocuklarda DMD genindeki mutasyonun tipi ile klinik gidis arasinda anlamli iliski bulunmamaktadir. Hastaligin ilerleme hizi benzer mutasyon tiplerinde dahi bireysel farkliliklar gosterebilmektedir.

© 2022 Elsevier B.V.Objective: Joubert syndrome is a neurodevelopmental disorder with a distinctive hindbrain malformation called molar tooth sign, causing motor and cognitive impairments. More than 40 genes have been associated with Joubert syndrome. We aim to describe a group of Joubert syndrome patients clinically and genetically emphasizing organ involvement. Methods: We retrospectively collected clinical information and molecular diagnosis data of 22 patients with Joubert syndrome from multiple facilities. Clinical exome or whole-exome sequencing were performed to identify causal variations in genes. Results: The most common variants were in the CPLANE1, CEP290, and TMEM67 genes, and other causative genes were AHI1, ARMC9, CEP41, CSPP1, HYLS1, KATNIP, KIAA0586, KIF7, RPGRIP1L, including some previously unreported variants in these genes. Multi-systemic organ involvement was observed in nine (40%) patients, with the eye being the most common, including Leber\"s congenital amaurosis, ptosis, and optic nerve coloboma. Portal hypertension and esophageal varices as liver and polycystic kidney disease and nephronophthisis as kidney involvement was encountered in our patients. The HYLS1 gene, which commonly causes hydrolethalus syndrome 1, was also associated with Joubert syndrome in one of our patients. A mild phenotype with hypophyseal hormone deficiencies without the classical molar tooth sign was observed with compound heterozygous and likely pathogenic variants not reported before in the KATNIP gene. Conclusion: Some rare variants that display prominent genetic heterogeneity with variable severity are first reported in our patients. In our study of 22 Joubert syndrome patients, CPLANE1 is the most affected gene, and Joubert syndrome as a ciliopathy is possible without a classical molar tooth sign, like in the KATNIP gene-affected patients.

Objectives Cytotoxic lesions of the corpus callosum (CLOCCs) are secondary lesions associated with entities like infection manifested by restricted diffusion on diffusion-weighted cranial magnetic resonance imaging. Our objectives are to evaluate the clinic-radiological spectrum of pediatric patients with cytotoxic lesions of the corpus callosum (CC). Methods Children (0–18 years) admitted between February 2017 and May 2020 with splenial lesions showing diffusion restriction on MRI, either isolated or within involvement of other parts of the brain, were included retrospectively. The primary lesions of the CC (e.g. acute disseminated encephalomyelitis, acute ischemic infarction, and glioblastoma multiforme) were excluded. CLOCCs were divided into infection-associated, metabolic disorder–associated, and trauma-associated lesions, as well as CLOCCs involving other entities. Data were collected from the medical databases. Results Forty-one patients were determined to have CLOCCs. Twenty-five (61%) were infection-associated, nine (22%) were trauma-associated, and three (7%) were metabolic disorder–associated cases, including 2 inherited disorders of metabolism. There were four (10%) patients with other entities, three with epilepsy, and one had an apparent life-threatening event. Six patients had a known etiology among the infection-associated group; one had multisystem inflammatory syndrome caused by COVID-19 and one had been infected by COVID-19 without any complications. All the infection-associated patients with isolated splenial lesions recovered totally, although six patients required intensive care hospitalization. Four trauma-associated patients had sequela lesions. Conclusions CLOCCs are associated with a spectrum of diseases, including the new coronavirus, COVID-19 infection. Infection-associated CLOCCs has the best prognosis, although severe cases may occur. Sequelae are possible based on the etiology.

Background Coronavirus disease 2019 may have neurological manifestations including meningitis, encephalitis, post-infectious brainstem encephalitis and Guillain-Barre syndrome. Neuroinflammation has been claimed as a possible cause. Here, we present a child with multisystem inflammatory syndrome in children (MIS-C) who developed pseudotumor cerebri syndrome (PTCS) during the disease course. Case A 11-year-old girl presented with 5 days of fever, headache and developed disturbance of consciousness, respiratory distress, conjunctivitis and diffuse rash on her trunk. Immunoglobulin M and G antibodies against severe acute respiratory syndrome coronavirus 2 were positive in her serum. She was diagnosed with MIS-C. On day 10, she developed headache and diplopia. Left abducens paralysis and bilateral grade 3 papilledema were observed. Brain magnetic resonance imaging revealed optic nerve head protrusion, globe flattening. She was diagnosed with secondary PTCS. Papilledema and abducens paralysis improved under acetazolamide and topiramate. Neurological examination became normal after 2 months. Conclusion PTCS may emerge related to MIS-C.

Purpose To identify the frequency of epilepsy and whether the association of epilepsy with clinical and neuroimaging findings in children with presumed perinatal arterial ischemic stroke (PPAIS). Methods We performed a retrospective analysis of 37 children with PPAIS followed-up at a tertiary referral center between January 1, 2000, and October 31, 2016. Clinical data including demographic features, age at onset of symptoms and seizures, initial clinical presentation, epilepsy features, used antiepileptic drugs, and thrombophilia screening results were abstracted from medical records. Brain magnetic resonance imaging scans were assessed for infarct laterality, location and affected brain regions. Results The median age of the patients was 12 years (range 2–17.9 years) at last assessment. The initial symptom of PPAIS was early hand preference in 33 children (89%) and seizure in 4 children (11%). A total of 20 children (54%) developed epilepsy at a median age of 0.9 years. There were two peaks of epilepsy onset in infancy and adolescence. Fifteen children (41%) had focal epilepsy and 5 children (14%) had epileptic spasms. Twelve out of 20 children (60%) with epilepsy had drug resistant epilepsy. Cortical involvement was a statistically significant predictor of epilepsy (p = 0.021, relative risk 4.4, 95% confidence interval 0.7–27.7). Conclusion More than half of the children with PPAIS suffered from epilepsy during childhood, of whom developed drug resistant epilepsy in majority. Children with cortical lesion may have a higher risk to develop epilepsy.

Background Reversible splenial lesion syndrome (RESLES) is characterized by a temporary lesion in the splenium of the corpus callosum, emerging related to encephalitis, seizures, antiepileptic drug withdrawal, or metabolic disturbances. Among RESLES, mild encephalitis/encephalopathy with reversible splenial lesion (MERS) has been defined as a distinct clinicoradiologic syndrome associated with viral infections. Case presentation We report two children with multisystem inflammatory syndrome-children related to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) who developed RESLES during the disease course. Encephalopathy was the main central nervous system symptom. Both of the children showed a rapid recovery, and brain magnetic resonance imaging revealed complete resolution of the splenial lesion within 1 week. Conclusion The complete resolution of the splenial lesion and rapid recovery from encephalopathy in RESLES associated with SARS CoV-2 were similar to observed in MERS.

We aimed to identify the determinants of partial remission in patients with type 1 diabetes mellitus (DM), and whether there is an influence of vaccination against measles on partial remission. This was a retrospective study consisting of consecutive patients diagnosed with type 1 DM followed-up from 1 September 2010, through 30 November 2011. The study included children vaccinated within 3 months after diagnosis, and children unvaccinated during the first 12 months of the disease. The daily insulin dose, hemoglobin A1c, and C-peptide levels, and whether children are in partial remission based on the insulin dose-adjusted HbA1c were recorded at diagnosis and 3, 6, 9, 12, 24, and 36 months. A total of 55 children with type 1 DM were analyzed. Thirty-one patients (56.4%) reached partial remission during the follow-up period, whereas 24 of them did not. Patients with diabetic ketoacidosis (DKA) at diagnosis were less likely to reach partial remission than patients without DKA (odds ratio [OR], 0.24; 95% confidence interval [CI], 0.062-0.946; P = .038). Patients vaccinated against measles were more likely to be in partial remission than patients unvaccinated (OR, 4.2; 95% CI, 1.35-13; P = .011). Partial remission was significantly associated with the C-peptide level and insulin dosage at diagnosis P = .002; P = .013, respectively). The lack of DKA, higher C-peptide level, and lower insulin dosage at diagnosis, and vaccination against measles after diagnosis may have an influence on partial clinical remission in patients with new-onset type 1 DM.

Population-based studies report that children with epilepsy have relatively better prognosis than those with an onset at infancy, though studies about this period are limited. We aimed to evaluate the etiology in infant epilepsy less than 2 years of age and foreseeable risk factors for anti-epileptic drug resistance. We evaluated the patients who were presented to the division of pediatric neurology in our university hospital with seizures when they were between 1 and 24 months of age and diagnosed as epilepsy. Two hundred and twenty-nine patients (110 male and 119 female) who were diagnosed between the ages of 1-24 months were included in the study. The etiologies were structural (n = 55;24%), genetic (n = 29;12.7%), metabolic (n = 27;11.7%), and infectious (n = 8;3.5%), and it was unknown in 110 patients (48%). One-hundred and forty (61%) patients met the criteria for drug-resistant epilepsy (DRE). Multivariate logistic regression analysis showed that developmental delay at onset (OR 3.9, 95% CI 1.22, 12.47, p = 0.021), multifocal epileptiform discharges (OR 2.8, 95% CI 1.1, 7.44, p = 0.031), and history of status epilepticus (OR 32.9, 95% CI 3.8, 285.35, p = 0.001) were strong predictive factors for DRE. The epilepsy in children under 2 years of age is highly resistant to the anti-epileptic drugs, which could be related to the history of status epilepticus, developmental delay at onset, and multifocal epileptiform discharges.

Background Levetiracetam, a widely used antiepileptic drug in children, has been associated with psychosocial and behavioral problems, which are also influenced by epilepsy variables, including duration or seizure frequency. Purpose The objective of this study is to investigate the frequency and timing of treatment-emergent psychosocial and behavioral problems in children receiving levetiracetam, irrespective of seizure variables which are possible confounders. Methods A prospective, case–control study with a 3-month follow-up was conducted. Consecutive children aged 6 to 16 years with new-onset partial seizures were included in case of starting treatment with either levetiracetam or valproic acid. Psychosocial and behavioral functioning were assessed using a set of standardized questionnaires including Strengths and Difficulties Questionnaire (SDQ) and Children's Depression Inventory (CDI) at baseline, 1 and 3-month follow-up. Patients' baseline scores were compared to healthy subjects. The difference in the follow-up SDQ and CDI scores was evaluated in patients receiving levetiracetam and valproic acid. Results A total of 101 participants were analyzed; 32 patients in levetiracetam group, 19 patients in valproic acid group and 50 healthy controls. Baseline SDQ and CDI scores were not statistically different between patients and healthy subjects ( p > 0.05). No statistically significant difference was observed in CDI, total and subscale SDQ scores between patients receiving levetiracetam or valproic acid during the study period ( p > 0.05). A girl aged 15 years receiving levetiracetam had a CDI score of 18 without suicidal ideation at baseline. She developed suicidal ideation and depression, which resolved after switching of levetiracetam to valproic acid, at the 1-month follow-up. No other psychiatric or behavioral side-effects were observed in other patients. Conclusion Psychosocial and behavioral side-effects of levetiracetam treatment are not frequent and they don't emerge in most of children at lower doses. At this dose, and after 3 months, using these specific instruments, we did not observe any difference between the valproic acid and levetiracetam treatment groups.

Objectives To determine the incidence and clinical relevance of neuronal autoantibodies in children with demyelinating syndromes. Methods We conducted a prospective study including 31 consecutive children with demyelinating syndromes. Four patients with N-Methyl- D -aspartate receptor (NMDAR) encephalitis, 32 patients with Guillain-Barre syndrome, 13 children with benign childhood epilepsy, and 28 healthy children were used as controls. Prior to initiating immunomodulatory therapy, serum samples were tested for antibodies against NMDAR, α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR) 1, AMPAR2, leucine-rich glioma-activated protein 1, contactin-associated protein 2, gamma-aminobutyric acid B receptors, paraneoplastic ma antigen 2 (PNMA2/Ta), Yo, Ri, Hu, CV2, amphiphysin, and aquaporin-4 by indirect immunofluorescence assays. Results Three anti-neuronal antibodies were detected; NMDAR antibody in one with multiple sclerosis, PNMA2/Ta antibody in one with multiple sclerosis, and Yo antibody in one with clinically isolated syndrome. The positivity rate of neuronal autoantibodies in demyelinating syndrome was 10%. All seropositive patients were found to be negative for tumor screening. None of these patients exhibited symptoms of encephalitis. Conclusion Children with demyelinating syndromes without symptoms of encephalitis can be positive for anti-neuronal antibodies.

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), a rare disorder caused by mutation in the ASAH1 gene, is characterized by progressive muscle weakness and intractable epilepsy. The literature about SMA-PME is very rare and most of the time limited to case reports. Mutation in the ASAH1 gene is also found in another rare syndrome which is Farber disease. We report a case of a 13.5-year-old girl with SMA-PME associated with ASAH1 gene mutation. She presented with progressive muscle weakness, tremor, seizure, and cognitive impairment. Clinical features and electrophysiological investigations revealed a motor neuron disease and generalized epilepsy. The marked difference in disease manifestations may explain why Farber and SMA-PME diseases were not suspected of being allelic conditions. SMA-PME cases with ASAH1 mutation could be treated using therapeutic studies regarding Farber disease. In patients with undefined PME or lower motor neuron disease cases, ASAH1 mutation scans should be studied.

Benign childhood epilepsy with centrotemporal spikes (BECTS), one of the most common idiopathic epilepsy syndromes in children, has been associated with neuropsychological problems.The objective of this study was to investigate the frequency of symptoms related to comorbid neurodevelopmental disorders, the autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) in children with typical BECTS, and to identify corresponding risk factors.Children and adolescents with typical BECTS aged 6-16 years were included in the study period from January 1, 2017, to December 31, 2017. Children with atypical presentations of BECTS, other neurological disorders, and preexisting neuropsychiatric disorders were excluded. The ASD and ADHD were assessed by the Social Communication Questionnaire (SCQ) and the Turgay Diagnostic and Statistical Manual of Mental Disorders - 4th Edition - Disruptive Behavior Disorders Rating Scale (T-DSM-IV-S), respectively. Patients' scores were compared with those of healthy subjects. Correlation analyses were performed to evaluate the association between the age at seizure onset, the total number of seizures and the SCQ and T-DSM-IV-S scores.Fifty-eight children with BECTS and 60 healthy children participated in the study. The total SCQ score, the SCQ reciprocal social interaction score, and the SCQ communication score significantly differed between children with BECTS and the control group (p = 0.001, p 0.001, p = 0.001, respectively). The total ADHD score was significantly different between patients and controls (p 0.001). A significant difference was observed between patients and controls in terms of the T-DSM-IV-S hyperactivity-impulsivity score and the T-DSM-IV-S inattention score (p = 0.012, p 0.001, respectively). The age at seizure onset was significantly correlated with the total SCQ score (p = 0.03). The Spearman's correlation coefficient was 0.352 for the total SCQ score, indicating a positive association between the age at seizure onset and the total SCQ score.Children with typical BECTS may have an increased risk of suffering from symptoms of ASD and ADHD. Children with late onset of seizures may be more likely to develop neuropsychological disturbances regarding ASD and ADHD.

Objective: Neurological sequelae associated with the neonatal seizures (NSs) are known in the long-term as epilepsy, neurodevelopmental retardation, and cerebral palsy. This study reports the psychosocial and behavioral problems among children whose neurodevelopmental status was not affected in the long-term. Method: Patients who were diagnosed with and treated for NSs between January 2006 and December 2008 were included in this case-control study. Children with physical inabilities, epilepsy, continuous medication use, concomitant chronic diseases and mental retardation (intelligence quantity 0.05). the total scores and subscala SDQ scores were not statistically different between children with neonatal seizures and controls (p>0.05). Conclusion: Psychosocial monitorization and referral of risky children who were exposed to seizures during active stages of brain development to psychiatric evaluation may be a reasonable approach., Amaç: Yenidoğan nöbetleri (YN) ile ilişkili nörolojik sekeller uzun dönemde epilepsi, nörogelişimsel gerilik ve serebral palsi olarak bilinir. Bu çalışma, YN geçirmiş, nörobilişsel açıdan uzun dönemde etkilenmeyen çocukların psikososyal ve davranışsal sorunları araştırmayı amaçlamaktadır. Yöntem: Ocak 2006 ile Aralık 2008 tarihleri arasında YN tanısı alan ve tedavi edilen hastalar olgukontrol çalışmasına dâhil edildi. Epilepsi, eşlik eden kronik hastalık, düzenli ilaç kullanımı öyküsü olan ve nöromotor gelişim basamaklarında gecikme olan hastalar çalışamaya dâhil edilmedi. Yaş, cinsiyet ve sosyoekonomik düzeyi hasta grubuna benzer olan çocuklar kontrol grubu olarak seçilmiştir. Davranış ve psikososyal değerlendirme için tüm katılımcılara standardize edilmiş sorular ve testler uygulandı. Çocuklar için Wechsler Zeka Ölçeği (WISC-IV) zihinsel performansı değerlendirmek için kullanıldı. Psikososyal ve davranışsal işlevsellik, Güçler ve Güçlükler Anketi (GGA) kullanılarak değerlendirilmiştir. Bulgular: YN olan 17 hasta (9 kız) ve yaşları 9-12 olan 18 sağlıklı kontrol (10 kız) çalışmaya dâhil edildi. YN olan çocuklar ile kontrol grubu arasında zekâ düzeylerinde istatistiksel olarak anlamlı bir fark bulunmadı (p>0,05). YN ve kontrol grubu arasında toplam puanlar ve alt ölçek SDQ puanları istatistiksel olarak farklı değildi (p>0,05). Sonuç: Beynin gelişim aşamasında nöbetlere maruz kalan riskli çocukların okul çağına geldiklerinde psikososyal açıdan izlenmesi, psikiyatrik değerlendirmeye yönlendirilmesi doğru bir yaklaşım olacaktır.

BACKGROUND AND OBJECTIVES This study was conducted to determine the differences in clinical and radiological features at the first demyelinating event in children with clinically isolated syndrome (CIS) and multiple sclerosis (MS). METHODS This was a single center retrospective cohort study of the children with CIS followed-up at Istanbul University Faculty of Medicine, Department of Pediatric Neurology, between 2010 and 2018. Children with CIS who were assessed at 3, 6, 12 and 24 months following their first identified demyelinating event were included. Demographic data, mode of presentation and the presence of the oligoclonal band in the cerebrospinal fluid (CSF) were abstracted from the medical records. Magnetic resonance imaging of the brain and spinal cord was analyzed for the location, number, size and gadolinium enhancement of the lesions. RESULTS A total of 51 patients` data was assessed, 38 patients at a mean age of 12.3 years were enrolled in the study. Twenty-seven children (71%) evolved into clinically definite MS after a mean follow-up of 11 months. Older age at first demyelinating event and the presence of the oligoclonal band in CSF were tended to be more common in patients with MS than patients with CIS (p < 0.05). The increased number of T2-hyperintense lesion and the presence of the lesion in periventricular, infratentorial and corpus callosum were associated with a tendency for development of MS (p < 0.05). CONCLUSION Older age at first demyelinating event, the presence of the oligoclonal band in CSF, the number and localization of T2-hyperintense lesion were associated with a tendency for development of MS.

Dravet syndrome is a rare and progressive epileptic encephalopathy of infancy. Stiripentol reduces the seizure frequency in patients with Dravet syndrome. We evaluated the clinical characteristics of patients with Dravet syndrome and their response to stiripentol. We retrospectively collected the data of 21 patients (11 females; mean age, 8.2 years, range: 5.4-15 years) with Dravet syndrome who were treated with stiripentol in our outpatient clinic between June 2016 and June 2017. Patients with seizure reduction ≥50% were considered responders. Most of our patients had severe (47%) or moderate (33%) cognitive disabilities, although 14% had mild cognitive disability. There was a significant difference in both status epilepticus and age between the groups with normal/mild versus severe/moderate neurocognitive prognoses. Of the patients, 85.7% were using stiripentol. The mean duration of stiripentol use was 41.2 months (range: 24-64 months). In 12 patients (57%), the seizure frequency decreased by more than 50%, and 2 of them were seizure-free. Status epilepticus was not recorded after stiripentol treatment in 8 of 11 patients with status epilepticus. Despite the small sample size, our results suggest that stiripentol has a favorable efficacy. In addition, considering the absence of status epilepticus after treatment and the negative effects of status epilepticus on cognitive development, early treatment should be initiated in SD patients, for whom disease control is difficult.

Amaç: Psödotümör serebri sendromu (PTSS)tanılı çocukların demografik özellikleri, başvuru semptomları ve görüntülemebulgularını tanımlayarak idyopatik intrakranial hipertansiyon (İİH) (primerPTSS) ile sekonder PTSS arasındaki farkların saptanması amaçlandı. Gereç ve Yöntem: Ocak 2011 ile Ocak 2016tarihleri arasında çocuk nörolojisi polikliniğinden PTSS tanısı ile takip edilmekteolan 18 yaşından küçük çocukların medikal kayıtları ve beyin görüntülemebulguları geriye dönük olarak değerlendirildi. Çocuklar İİH tanılı olanlar vesekonder PTSS gelişenler olmak üzere iki grupta incelendi.Bulgular: Çalışmaya 26 çocuk dahil edildi.Birinci grup 16, 2. grup 10 hastadan oluşuyordu. İkinci gruptaki hastaların4’ünde sinüs ven trombozu, 1’inde otoimmün tiroidit, 1’inde hipotiroidi, 1’indeDown sendromu, 1’inde hipofiz adenomu, 1’inde gebelik ilişkili PTSS saptandı.Bir hastada ise büyüme hormonu tedavisi almakta iken PTSS gelişmişti. Başvuruanındaki yaş ortalamaları, prepubertal/postpubertal hasta oranı, baş ağrısı,çift görme, görme bulanıklığı/kaybı ve bulantı/kusma varlığı açısından gruplararasında istatiksel açıdan anlamlı fark saptanmadı (p>0,05). Pozitifradyolojik bulgu oranı iki grup arasında istatiksel olarak farklı değildi(p>0,05).Sonuç:PTSS saptanan çocuklarda başvuru şikayetleri ve beyin görüntüleme bulgularıidyopatik olanlar ile sekonder PTSS gelişenler arasında benzer bulunmuştur., Objective: We aimed to define thedemographic characteristics, referral symptoms, and neuroimaging findings inchildren with pseudotumor cerebri syndrome (PTCS) by comparing the differencesbetween idiopathic intracranial hypertension (IIH) (primary PTSS) and secondaryPTCS.Materials and Methods: We retrospectivelyevaluated the medical records and brain imaging findings of children with PTCSwho were 0.05). Positive radiological findings were not statistically different betweenthe two groups (p > 0.05).Conclusion:In children with PTSS, the symptoms at onset and brain imaging findings werefound to be similar between primary and secondary PTSS.

Background Vanishing white matter disease is a heterogeneous disorder caused by mutation in one of the five genes encoding subunits of the eukaryotic initiation factor eIF2B. It is a heterogeneous disorder due to phenotypic variation and a clear genotype-phenotype correlation could not be established so far. We describe a novel mutation in the EIF2B5 gene by analyzing the clinical phenotype and the progression of brain lesions for 10 years. Case A novel mutation in the EIF2B5 gene was detected in the heterozygous state; c.1688G > A (p. Arg563Gln) mutation in exon 12, accompanied by a previously detected c.806G > A (p. Arg269Gln) mutation in exon 6, leading to substitution of arginine for a glutamine. This compound heterozygous mutation was associated with disease onset at early childhood and relatively slow progression of neurological deterioration. In contrast to previous findings indicated the association of c.806G > A mutation and peripheral neuropathy in patients with vanishing white matter disease, electromyography of our case was normal. The corpus callosum inner rim was the affected area at early stages, which may be remarkable for early diagnosis of vanishing white matter disease. Serial follow-up magnetic resonance imaging revealed the white matter signal abnormality, subsequently cystic degeneration and decrease in white matter volume. Conclusion The novel mutation c.1688G > A in compound heterozygous state leads to intermediate phenotype of the vanishing white matter disease. In the early stages of the disease the signal abnormality in the corpus callosum inner rim might be remarkable.

Lacosamide (LCM) is an effective antiepileptic drug (AED) approved for the treatment of focal epilepsy in both children and adults. The aim of this observational study was to review our centre’s experience with LCM and to characterise its efficacy and tolerability as an adjunct therapy in children with refractory focal epilepsy. We retrospectively reviewed the medical records of 12 paediatric patients who underwent treatment with LCM from January 2014 to December 2015. We recorded the treatment response at three time points: at 3 and 6 months after LCM therapy and at the final follow-up visit. Children showing seizure reduction ≥ 50% were considered responders. We included 12 patients (five boys), and their mean age was 13.8 years (range: 6.2–17.6 years) at the end of LCM treatment. The average length of follow-up after starting LCM was 23 months (11–37 months). Eight patients (66%) had > 50% reduction in seizures at the 3-month follow-up visit, and seven (58%) had > 50% reduction at the 6-month follow-up visit. Six patients (50%) maintained ≥ 50% reduction in seizures at the final follow-up visit. Two patients (16.6%) were seizure free at the 6-month and final follow-up visits. Common adverse side effects included dizziness, ataxia, nausea, and vomiting. Two patients developed status epilepticus (SE), one each at 3 and 11 days after the first LCM dose; they both discontinued treatment. Our study points to the efficacy of LCM in a small paediatric group. Furthermore, it was important to report status epilepticus after LCM administration in the paediatric population for the first time.

Antiepileptic drugs (AED) have potential side effects through vitamin-D. Prevalence of vitamin D insufficiency and potential risk factors for the longitudinal changes of vitamin D levels compared to its baseline levels under AED treatment were investigated in this study. This retrospective study includes patients whose AED therapy were started in only autumn months, between 2000 and 2014. Detailed assessment of neurologic diagnosis and brain MRI findings, ambulatory status, types and durations of AED treatment, and baseline bone health blood tests (vitamin-D, alkaline phosphatase, calcium, and phosphate levels) were obtained on all patients. Vitamin-D deficiency was defined as 25(OH)D

Background Psychosocial and behavioral problems have been reported in children with benign epilepsy with centrotemporal spikes (BECTS). Distinctive features of typical BECTS associated with cognitive and behavioral problems have not clearly been defined. Purpose We aimed to identify psychosocial and behavioral functioning and their relationship to seizure timing in BECTS. Methods Consecutive patients with BECTS were recruited from the pediatric neurology outpatient clinic between May 2015 and May 2016. The patients were divided into two subgroups in according to seizure timing; group 1 consisted of patients with seizures only in the morning short before awakening, and group 2 consisted of patients with seizure shortly after falling asleep or in both time periods. Neuropsychological and behavioral evaluation in patients and healthy controls were examined using the Wechsler Intelligence Scale for Children-Revised test and the Turkish version of Strengths and Difficulties Questionnaire (SDQ). Results The participants comprised 46 children with BECTS and 49 healthy controls aged 7–16 years. There was no significant difference between group 1, group 2, and control group regarding intelligence quantity in full-scale or verbal and performance subscales. Behavioral scores for overall stress significantly differed between group 2 and controls on the SDQ test, while group 1 and control group had no difference on the SDQ scores. Conclusion Patients with BECTS who have seizure shortly after falling asleep may have a tendency towards behavior difficulties.

Yıldız EP, Hızlı Z, Bektaş G, Ulak-Özkan M, Tatlı B, Aydınlı N, Çalışkan M, Özmen M. Efficacy of rufinamide in childhood refractory epilepsy. Turk J Pediatr 2018; 60: 238-243. Rufinamide has been used as a new antiepileptic drug in the treatment of drug-resistant epilepsy, in recent years. The objective of this study was to evaluate the reliability of rufinamide and its impact on seizure frequency in patients diagnosed with drug-resistant epilepsy, where seizures could not be controlled with `classical` antiepileptic drugs. We retrospectively reviewed the data of epileptic patients who were followed up between January 2004 and December 2014 in the Pediatric Neurology Department. Patients who were diagnosed with `drug resistant epilepsy` and treated with rufinamide were evaluated. Decrease in seizure frequency and drug side effects were assessed as parameters. A total of 38 patients (14 girls, 24 boys) with a mean age of 8.5 (range, 3.5-17) years were included in the study. The mean follow-up duration was 25.5 (23-29.5) months, while the mean maximal dose of rufinamide was 32.5 (28-42) mg/kg/day. Response to treatment was assessed by the reduction in frequency of seizures. The decrease was50% (essentially unresponsive to treatment) in 20 patients and 50‑99% in 8 patients. Ten patients (26.3%) remained seizure-free. The response rate for tonic seizures was 50%. In drop/attacks seizures, this ratio was found as 73%, which was quite high. Patients with myoclonic and tonic-clonic seizures did not significantly benefit from rufinamide. The rate of patients with Lennox-Gestaut syndrome (LGS) who responded very well (reduction in seizure frequency50%) was 55.5%. In the LGS group, patients with drop/attacks showed the best response to treatment. Rufinamide was not effective in two patients diagnosed with Dravet syndrome. Rufinamide can be safely used in pediatric patients who use multiple antiepileptic drugs and are unresponsive to the treatment. It was seen to be effective especially in patients diagnosed with LGS and drop/attacks types of seizures.

Background Rufinamide is a novel antiepileptic drug used as adjunctive therapy in patients with Lennox–Gastaut syndrome and provides seizure control especially in tonic and atonic seizures. Rufinamide is expected to be effective in intractable epilepsy when atonic and tonic seizures exist. However, rufinamide induced seizure aggravation has been reported in a few patients, which was not associated with a specific type of seizure. Case A 12-year-old boy with intractable epilepsy had tonic and atonic seizures despite treatment with valproic acid (3000 mg/day), levetiracetam (3000 mg/day) and clobazam (40 mg/day). Rufinamide was administered as adjuvant therapy. After 2 weeks on rufinamide, he experienced atonic seizure worsening, and the frequency of epileptic discharges increased. The deterioration in seizure frequency and epileptiform discharges resolved when rufinamide was discontinued. Conclusion Rufinamide may aggravate atonic seizures in patients with intractable epilepsy.

Bektaş G, Yeşil G, Yıldız EP, Aydınlı N, Çalışkan M, Özmen M. Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation. Turk J Pediatr 2017; 59: 329-334. Hereditary spastic paraplegia type 35 (SPG35) is a rare disorder characterized by progressive spasticity. Mutations in the fatty acid 2-hydroxylase (FA2H) gene in different loci are responsible for phenotypic variability. We aimed to define the phenotype of SPG35 linked to a novel homozygous mutation c.160_169dup (p.Asp57Glyfs*48) in the FA2H gene, and compared with the clinical characteristics and neuroimaging findings of the patients with mutation in the FA2H gene. We describe a 5-year-old boy presenting with spastic paraplegia. He developed a rapid progressive spastic paraplegia and loss of ambulation at an early age, despite the absence of accompanying seizure, neuropathy, cognitive impairment, speech disturbance, and optic atrophy. Neuroimaging revealed white matter changes without brain iron accumulation. A duplication variation; leading to a truncated protein c.160_169dup in the FA2H gene was found on the homozygous state. A homozygous mutation c.160_169dup in the FA2H gene, which resulted in SPG35 phenotype, may present with rapid progressive spastic paraplegia at an early age.

Çocukluk çağının sentrotemporal dikenli selim epilepsisi rolandik epilepsi , çocukluk çağında en sık görülen fokal epilepsi sendromudur. Bu hastalığın selim bir seyri olduğu kabul edilmesine karşın konuşma, davranış anormallikleri- ne ve kognitif bozulmaya yol açabileceği bildirilmiştir. Nöbet sıklığından bağımsız olarak, interiktal rolandik epi- leptiform deşarjların nörofizyolojik fonksiyonlar açısından potansiyel bir risk faktörü olduğu öne sürülmektedir. Rolandik epilepsinin tipik klinik seyri ile bu hastalar üze- rinde yapılan nörofizyolojik çalışmalar irdelenmiştir, Benign epilepsy with centrotemporal spikes rolandic epi- lepsy is the most common childhood focal epilepsy syn- drome. Although rolandic epilepsy is characterized by a benign clinical course, deterioration of language, behaviour, and cognitive functions have been also reported. Interictal rolandic epileptiform discharges are suggested to be a potential risk factor for neurophysiological impairment regardless of frequency of seizures. Typical clinical course of rolandic epilepsy and neurophysiological studies performed on patients with rolandic epilepsy were evaluated