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Background: The discovery of anti-myelin oligodendrocyte glycoprotein (MOG)-IgG and anti-aquaporin 4 (AQP4)-IgG and the observation on certain patients previously diagnosed with multiple sclerosis (MS) actually have an antibody-mediated disease mandated re-evaluation of pediatric MS series. Aim: To describe the characteristics of recent pediatric MS cases by age groups and compare with the cohort established before 2015. Method: Data of pediatric MS patients diagnosed between 2015 and 2021 were collected from 44 pediatric neurology centers across Türkiye. Clinical and paraclinical features were compared between patients with disease onset before 12 years (earlier onset) and ≥12 years (later onset) as well as between our current (2015–2021) and previous (

We aimed at evaluating acute neurologic complications (ANC) and clinical outcome at a 2-year follow-up in children after extracorporeal membrane oxygenation (ECMO).We conducted a single-center, retrospective review of our patient cohort aged between 1 month and 18 years at the time of ECMO support (between June 2014 to January 2017). Outcome analysis included ANC and their clinical consequences.The Pediatric Overall Performance Category (POPC) and Pediatric Cerebral Performance Category (PCPC) were used for neurologic assessment performed at discharge from the hospital and at 2nd year follow-up.There were 35 children who required ECMO. The median ECMO time was 9 days (range 2-32 days). Decannulation from ECMO was achieved in 68.6% of patients, and overall, 42.8% survived (15 patients), The incidence of ANC in the surviving patients was 40% (6 children). ANC were intracranial hemorrhage, seizures, cerebral infarction, which occurred in one, two and three of the 15 surviving patients respectively (6.6, 13.3 and 20%). A higher rate of organ failure was related to death (p=0.043), whereas duration on ECMO was a risk factor for the development of ANC (p0.05). At hospital discharge, the 14 patients evaluated had normal development or -mild disability in 73.2%, and at the 2-year follow-up, 93.4% had these scores.Children who receive ECMO have a risk to develop ANC, which was related to the length of ECMO treatment, while survival was related to less organ failure, Long-term neurological outcome was good in our patient cohort.In dieser Studie wollten wir akute neurologische Komplikationen (ANK) und ihre Folgen in einer 2-jährigen Beobachtung bei Kindern nach extrakorporaler Membranoxygenierung (ECMO) beschreiben und bewerten.Patienten in einem Alter zwischen 1 Monat und 18 Jahren, die zwischen Juni 2014 und Januar 2017 eine ECMO Unterstützung benötigten, wurden in diese Einzelzentrums- und retrospektive Studie aufgenommen. Die Ergebnisanalyse umfasste akute neurologische Komplikationen und ihre Folgen. Zur Bewertung wurden die ‚Pediatric Overall Performance Category‘ (POPC) und die ‚Pediatric Cerebral Performance Category‘ (PCPC) bei der Entlassung und bei der Nachuntersuchung im 2. Jahr verwendet.Es wurden 35 Kinder mit der ECMO behandelt. Die durchschnittliche Verweilzeit unter ECMO war neun Tage (2–32 Tage). Eine Beendigung der ECMO wurde bei 68,6%der Patienten erreicht und es überlebten insgesamt 43% (15 Kinder). Die Inzidenz von ANK bei den Überlebenden betrug 40% (6 Kinder): intrakranielle Blutung, zerebraler Anfall, Hirninfarkt, die bei einem, zwei, bzw drei der 15 überlebenden Kindern auftraten (6,6, 13,3 and 20%). Eine höhere Rate an Organversagen war mit dem Tod assoziiert (p=0,043), wohingegen die Zeit an der ECMO als Risikofaktor für die Entwicklung ANK identifiziert wurde (p0,05). Score.Zum Zeitpunkt der Entlassung lag der score bei 73,2% der untersuchten 14 Patienten im normalen oder leicht beeinträchtigten Bereich; nach 2 Jahren zeigten 93,4% diese Scores SCHLUßFOLGERUNG: Kinder, die ECMO-Therapie benötigen, haben, abhängig von der Dauer der Therapie, ein Risiko, ANK zu entwickeln. Das Überleben war mit geringer auftretendem Organversagen korreliert. Das neurologische Langzeitergebnis war in unserer Patientenkohorte gut.

© 2021, The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.Children with chronic neurological diseases, including cerebral palsy (CP), are especially susceptible to vaccine-preventable infections and face an increased risk of severe respiratory infections and decompensation of their disease. This study aims to examine age-appropriate immunization status and related factors in the CP population of our country. This cross-sectional prospective multicentered survey study included 18 pediatric neurology clinics around Turkey, wherein outpatient children with CP were included in the study. Data on patient and CP characteristics, concomitant disorders, vaccination status included in the National Immunization Program (NIP), administration, and influenza vaccine recommendation were collected at a single visit. A total of 1194 patients were enrolled. Regarding immunization records, the most frequently administrated and schedule completed vaccines were BCG (90.8%), hepatitis B (88.9%), and oral poliovirus vaccine (88.5%). MMR was administered to 77.3%, and DTaP-IPV-HiB was administered to 60.5% of patients. For the pneumococcal vaccines, 54.1% of children received PCV in the scope of the NIP, and 15.2% of children were not fully vaccinated for their age. The influenza vaccine was administered only to 3.4% of the patients at any time and was never recommended to 1122 parents (93.9%). In the patients with severe (grades 4 and 5) motor dysfunction, the frequency of incomplete/none vaccination of hepatitis B, BCG, DTaP-IPV-HiB, OPV, and MMR was statistically more common than mild to moderate (grades 1–3) motor dysfunction (p = 0.003, p < 0.001, p < 0.001, p < 0.00, and p < 0.001, respectively). Physicians’ influenza vaccine recommendation was higher in the severe motor dysfunction group, and the difference was statistically significant (p = 0.029). Conclusion: Children with CP had lower immunization rates and incomplete immunization programs. Clinicians must ensure children with CP receive the same preventative health measures as healthy children, including vaccines. What is Known:• Health authorities have defined chronic neurological diseases as high-risk conditions for influenza and pneumococcal infections, and they recommend vaccines against these infections.• Children with CP have a high risk of incomplete and delayed immunization, a significant concern given to their increased healthcare needs and vulnerability to infectious diseases.What is New:• Influenza vaccination was recommended for patients hospitalized due to pneumonia at a higher rate, and patients were administered influenza vaccine more commonly.• Children with CP who had higher levels of motor dysfunction (levels 4 and 5) were more likely to be overdue immunizations.

The coronavirus disease 2019 (COVID-19) caused by SARS-CoV-2 appeared in Wuhan, China in December 2019 and quickly spread around the world and is considered a global pandemic. This disease, which is pre-infected with respiratory and cardiovascular system symptoms, can also occur in many organ systems. Since the beginning of the pandemic, cases related to neurological involvement have been reported in the literature and studies coercing neurological findings and complications have been published. COVID-19 can cause wide spectrum of neurological phenotypes from severe to milder. To the best of our knowledge, our case is the first report describing the chorea in a patient associated with COVİD-19. In this article, we aim to present a patient who was admitted with chorea on the 3rd day of the COVID-19 followed by Sydenham chorea, which had already improved. This report expands the phenotypic spectrum of COVID-19 and suggests that COVID-19 can be associated with or trigger chorea.

Dravet syndrome is a catastrophic progressive epileptic syndrome. De novo loss of function mutations on the SCN1A gene coding voltage-gated sodium channels are responsible. Disruption of the triggering of hippocampal GABAergic interneurons is assumed as the cause of fall in the seizure threshold. A ten-year-old boy first presented at age 10 months with febrile-clonic seizures, which began when he was aged 8 months. Electroencephalography was found as normal. Phenobarbital was initiated because of long-lasting seizures. However, his seizures continued and the therapy was replaced with valproic acid. On follow-up, different antiepileptics were used, which were stopped due to inefficiency or adverse effects. SCN1A gene analysis was performed and a heterozygous c.4018delC mutation was identified. This new frame-shift mutation resulting from an early stop-codon is thought to be the cause of the disease. Finally, he was prescribed valproic acid and stiripentol. For patients with fever-triggered, treatment-resistant seizures, and delayed psychomotor development, Dravet syndrome should be considered. Genetic diagnosis is important for treatment and follow-up.

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 (

Botulism is a rare cause of neuroparalysis. Delay in diagnosis and treatment exerts adverse impact on mortality and morbidity. We report a child with complete flaccid paralysis followed by progression to coma-like consciousness. The patient required mechanical ventilation. As serological tests could not be performed, detailed history and physical examinations led to the suspicion of botulism, and repetitive nerve stimulation tests supported the diagnosis. Botulinum antitoxin was administered. The patient`s neuromuscular function improved rapidly.

Stroke is defined as a sudden occlusion or rupture of cerebral arteries or veins resulting in focal cerebral damage and clinical neurologic deficits. Occlusion can be arterial or venous. The incidence of pediatric stroke is 8–10.7/ 100.000 children / year. The risk factors in childhood stroke are multiple and should be detected after the acute state.Since there are not randomized controlled studies for childhood stroke treatment the treatment is still controversial and relies on adult literature.

Cerebellar dysplasia with cysts and abnormal shape of the fourth ventricle, in the absence of significant supratentorial anomalies and of muscular involvement, defines recessively inherited Poretti-Boltshauser syndrome (PBS). Clinical features comprise non-progressive cerebellar ataxia, intellectual disability of variable degree, language impairment, ocular motor apraxia and frequent occurrence of myopia or retinopathy. Recently, loss-of-function variants in the LAMA1 gene were identified in six probands with PBS. Here we report the detailed clinical, neuroimaging and genetic characterization of 18 PBS patients from 15 unrelated families. Biallelic LAMA1 variants were identified in 14 families (93%). The only non-mutated proband presented atypical clinical and neuroimaging features, challenging the diagnosis of PBS. Sixteen distinct variants were identified, which were all novel. In particular, the frameshift variant c.[2935delA] recurred in six unrelated families on a shared haplotype, suggesting a founder effect. No LAMA1 variants could be detected in 27 probands with different cerebellar dysplasias or non-progressive cerebellar ataxia, confirming the strong correlate between LAMA1 variants and PBS.

Protein Z (PZ) plays an enhancer role in coagulation as an anticoagulant. This is the first study in which G79A polymorphism investigated in Turkish paediatric stroke patients. Ninety-one paediatric stroke patients with cerebral ischemia and 70 control subjects were analyzed for PZ G79A and also FVL, PT mutations. PZ 79 'A' allele in homozygous state was found in five patients (5,5%), while it was found only in one control subject (1,4%) and it was seemed as a risk factor for peadiatric ischemia [OR=3,94 (0,44-35,1)]. When patients and controls who had FVL and PT carriers were excluded, AA genotype carried a risk [OR=3,88 (0,41-36,5)]. Also plasma protein Z levels measured in 21 stroke patients and 52 controls. Plasma protein Z levels were not different between stroke patients (500,95 ngmL-1±158,35) and controls (447,34 ngmL-1±165,97). But the plasma levels of protein Z was decreased in patients with AA genotype. Our data showed that carrying 79 AA genotype could be a genetic risk factor for cerebral infarct in peadiatric patients.Protein Z (PZ)’nin koagülasyonu artırıcı yönde etkisinin yanısıra antikoagülant olarak da rol oynadığı gösterilmiştir. G79A polimorfizminin Türk çocukluk çağı iskemi hastalarında incelendiği ilk çalışmadır. İskemik infarktüs geçiren 91 çocuk inme hastası ve 70 kontrol bu polimorfizm ve FVL, PT mutasyonları açısından incelenmiştir. ‘A’ alleli beş hastada (%5,5) homozigot olarak bulunurken yalnızca bir kontrolde (%1,4) homozigotluğu saptanmış ve çocukluk çağı inme için risk faktörü olarak görünmektedir [OR=3,94 (0,44-35,1)]. FVL ve PT mutasyonlarını taşıyan hasta ve kontroller çıkartıldığında AA genotipi yine risk getirmektedir [OR=3,88 (0,41-36,5)]. Ayrıca 21 inme hastası ve 52 kontrolde plazma protein Z düzeylerine bakılmıştır. Hasta (500,95 ngmL-1±158,35) ve kontrollerde (447,34 ngmL-1±165,97) plazma protein Z düzeyleri farklı bulunmamıştır. Ancak AA genotipi taşıyan hastalarda plazma protein Z düzeyi düşük bulunmuştur. Sonuçlarımız, 79 AA genotipini taşımanın çocukluk çağı iskemik infarktüs hastalarında genetik bir risk faktörü olabileceğini göstermiştir.

Ciliopathies are an expanding group of rare conditions characterized by multiorgan involvement, that are caused by mutations in genes encoding for proteins of the primary cilium or its apparatus. Among these genes, CEP290 bears an intriguing allelic spectrum, being commonly mutated in Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS), Senior-Loken syndrome and isolated Leber congenital amaurosis (LCA). Although these conditions are recessively inherited, in a subset of patients only one CEP290 mutation could be detected. To assess whether genomic rearrangements involving the CEP290 gene could represent a possible mutational mechanism in these cases, exon dosage analysis on genomic DNA was performed in two groups of CEP290 heterozygous patients, including five JSRD/ MKS cases and four LCA, respectively. In one JSRD patient, we identified a large heterozygous deletion encompassing CEP290 C -terminus that resulted in marked reduction of mRNA expression. No copy number alterations were identified in the remaining probands. The present work expands the CEP290 genotypic spectrum to include multiexon deletions. Although this mechanism does not appear to be frequent, screening for genomic rearrangements should be considered in patients in whom a single CEP290 mutated allele was identified.

Botulism is an acute, flaccid paralytic illness caused by the neurotoxin produced by Clostridium species . Three forms of botulism are known; infant botulism, food borne, and wound botulism. We report an 11-year-old boy with food borne botulism diagnosed on electromyography. Although his clinical findings improved in 10 days, his symptoms recurred, showing a biphasic course. After 3 weeks, he was symptom free. His electromyography findings were also normal on the 3rd week. After 3 weeks, he was discharged without clinical symptoms.