Dihydropyrimidinase deficiency with atrioventricular septal defect: a case report.

Objectives: Dihydropyrimidinase deficiency is a rare autosomal recessive disorder of the pyrimidine degradation pathway, with fewer than 40 patients published. Clinical findings are variable and some patients may remain asymptomatic. Global developmental delay and increased susceptibility to 5-fluorouracil are commonly reported.

Non-routine thrombectomy in pediatric arterial ischemic stroke.

Purpose: Unlike in adults, the indications and techniques for mechanical thrombectomy for arterial ischemic stroke (AIS) in children are not clearly established. The medical and interventional management of children with acute large vessel occlusion may entail the modification of the standardized management of this condition in adults. We present six cases of children who underwent non-routine thrombectomy for AIS.

Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10.

Proline-5-carboxylate reductase 2, encoded by PYCR2 gene, is an enzyme that catalyzes the last step of proline synthesis from pyrroline-5-carboxylate synthetase to proline. PYCR2 gene defect causes hypomyelinating leukodystrophy 10. Up until now, to our knowledge around 38 patients with PYCR2 defect have been reported.

Predictors of Clinically Important Neuroimaging Findings in Children Presenting Pediatric Emergency Department.

Objective: The aim of the study is to evaluate predictors of clinically important neuroimaging results, that is, computed tomography and magnetic resonance imaging in children in an academic pediatric emergency department (PED) from 2015 to 2019.

Methods: This study was conducted in an academic PED. The patient's demographic and clinical characteristics of PED visits and neuroimaging findings requested at the PED were recorded for January 1, 2015, to December 31, 2019.

Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency.

Objective: To evaluate clinical characteristics and long-term outcomes in patients with guanidinoacetate methyltransferase (GAMT) deficiency with a special emphasis on seizures and electroencephalography (EEG) findings.

Methods: We retrospectively analyzed the clinical and molecular characteristics, seizure types, EEG findings, neuroimaging features, clinical severity scores, and treatment outcomes in six patients diagnosed with GAMT deficiency.

Results: Median age at presentation and diagnosis were 11.

Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature.

is involved in posttranslational modification and is known to have a role in physiological functions such as cell signaling, DNA repair, gene control, cell death, and response to stress. Recently, a group of neurological disorders due to variants is described, characterized by childhood-onset, stress-induced variable movement disorders, neuropathy, seizures, and neurodegenerative course. We present the diagnostic pathway of two pediatric patients with episodic dystonia and ataxia, who later had a neurodegenerative course complicated by central hypoventilation syndrome due to the same homozygous variant.

ORAI1 defect in a patient with disseminated CMV infection and severe hypotonia.

Background: A clinical presentation similar to severe combined immunodeficiency (SCID) with defective T cell activation but normal lymphocyte development occurs due to certain molecule defects including ORAI1- and STIM1.

Case: A four-month-old girl sufferd from fever, restlessness, diarrhea, and poor weight gain following the neonatal period. There was consanguinity and a positive family history.

Non-epileptic paroxysmal events at pediatric video-electroencephalography monitoring unit over a 15-year period.

Objective: Non-epileptic paroxysmal events (NEPEs) are common in pediatric patients and may be misdiagnosed as epileptic seizures. We aimed to study the distribution of NEPEs across age groups and with different comorbidities, and to correlate the patients' presenting symptoms with their final diagnosis after video-EEG.

Methods: We retrospectively analyzed video-EEG recordings of children aged one month to 18 years who were admitted between March 2005 and March 2020.

Clinically important intracranial abnormalities in children presenting with first focal seizure.

Background: Management of pediatric patients presenting with first seizure is challenging, especially with regards to emergent neuroimaging. The rate of abnormal neuroimaging findings is known to be higher in focal seizures than in generalized seizures, but those intracranial abnormalities are not always clinically emergent. In this study, we aimed to determine the rate and indicators for clinically important intracranial abnormalities that change acute management in children presenting with a first focal seizure to the pediatric emergency department (PED).

Claude Syndrome in Childhood Associated with Probable Neuro-Behcet Disease.

Claude syndrome is a rare midbrain stroke syndrome characterized by ipsilateral third cranial nerve palsy and contralateral hemiataxia. So far, only a few cases have been reported in childhood. We present two children with Claude syndrome at 9 and 15 years of age.

Synthetic MRI in children with tuberous sclerosis complex.

Objective: The generation of numerous sequences and quantitative data in a short scanning time is the most potential advantage of Synthetic MRI (SyMRI). We aimed to test detection of the tubers and to determine underlying tissue characteristics, and morphometric alterations in the brain of pediatric tuberous sclerosis complex (TSC) patients, using SyMRI.

Methods: Conventional brain MRI (cMRI) and SyMRI were prospectively obtained from 10 TSC patients and 18 healthy control subjects (HCs).

Evaluation of changes in physician behavior after introduction of pediatric syncope approach protocol in the emergency department.

Objectives: Syncope is a common presenting symptom in the pediatric emergency department (PED). The etiology of pediatric syncope is generally benign. However, differentiating cardiac and other serious causes from benign causes of syncope are crucial.

Lesional resective epilepsy surgery in childhood: Comparison of two decades and long-term seizure outcome from a single center.

Objective: Epilepsy surgery has shown efficacy in children. We aimed to assess long-term seizure outcome in children who underwent epilepsy surgery and determine predictive factors for seizure freedom.

Methods: This is a retrospective study of 196 children who underwent epilepsy surgery between 1994 and 2015 and had a minimum postoperative follow-up of 5 years.

Comparison of physical fitness, activity, and quality of life of the children with epilepsy and their healthy peers.

Objective: To identify physical fitness and activity levels, and health-related quality of life of children with epilepsy in Turkey and compare the results with their healthy peers.

Methods: The study included 21 children with epilepsy (with no seizures and not taking anti-epileptic drugs for at least a year) and 20 healthy peers. The FitnessGram Physical Fitness Test Battery was used to assess physical fitness, the 6-Minute Walk Test to assess physical performance, the Pediatric Quality of Life Inventory 4.

Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity.

ELFN1, a transmembrane leucine rich repeat protein, is involved in signal transduction in both neural cells and ROD ON-bipolar synaptogenesis. We present three siblings with developmental and epileptic encephalopathy and co-morbidities due to ELFN1 gene mutation; this is the first report in literature defining the human phenotype of ELFN1 gene mutation. Clinical, electrophysiological, and radiological findings along with comprehensive genetic studies of the patients and their family members are presented.

The training and organization of Paediatric Neurology in Europe: Special report of the European Paediatric Neurology Society & Committee of National Advisors.

Background: Paediatric Neurology (PN) is a discipline focused on diagnosis, comprehensive management and research into diseases of the central and peripheral nervous system from fetal life to transition into adulthood. The European Paediatric Neurology Society first designed and published the European PN training programme in the European Paediatric Neurology Syllabus in 2002. This was important in gaining recognition for the sub-specialty from the European Academy of Paediatrics and the European Academy of Neurology and in 2003 PN was recognized as a sub-specialty of paediatrics and neurology by the Board of the European Union of Medical Specialties.

International consensus classification of hippocampal sclerosis and etiologic diversity in children with temporal lobectomy.

Introduction: The distribution of hippocampal sclerosis (HS) subtypes, according to the classification of the International League Against Epilepsy (ILAE), has been reported mainly in adult patients. We aimed to review the pathological findings in children who had anterior temporal lobectomy accompanied with amygdalohippocampectomy, in view of the current classification, and evaluate postsurgical outcome with respect to HS subtypes in childhood.

Methods: Seventy children who underwent temporal resections for treatment of medically refractory epilepsy, with a minimum follow-up of 2 years, were included; the surgical hippocampus specimens were re-evaluated under the HS ILAE classification.

Novel insights into diabetes mellitus due to DNAJC3-defect: Evolution of neurological and endocrine phenotype in the pediatric age group.

Background: A number of inborn errors of metabolism caused by abnormal protein trafficking that lead to endoplasmic reticulum storage diseases (ERSD) have been defined in the last two decades. One such disorder involves biallelic mutations in the gene encoding endoplasmic reticulum resident co-chaperone DNAJC3 (P58 ) that leads to diabetes in the second decade of life, in addition to multiple endocrine dysfunction and nervous system involvement.

Objective: The aim of this study was to define the natural history of this new form of diabetes, especially the course of abnormalities related to glucose metabolism.

Long-term effects of vagus nerve stimulation in refractory pediatric epilepsy: A single-center experience.

Introduction: Vagus nerve stimulation (VNS) has been used as an adjunctive therapy for both children and adults with refractory epilepsy, over the last two decades. In this study, we aimed to evaluate the long-term effects and tolerability of VNS in the pediatric drug-resistant epilepsy (DRE) and to identify the predictive factors for responsiveness to VNS.

Methods: We retrospectively reviewed the medical records of pediatric patients who underwent VNS implantation between 1997 and 2018.

Epilepsy in neurofibromatosis type 1: Diffuse cerebral dysfunction?

Introduction: Neurofibromatosis type 1 (NF1) is accompanied by epileptic seizures in 4-7% of patients. We examined clinical, electrophysiological, and radiological features associated with epilepsy in our NF1 series in order to identify risk factors.

Methods: We reviewed data of 641 pediatric patients with NF1 diagnosis according to National Institutes of Health (NIH) criteria in Hacettepe University records from January 2008-August 2018.