Optic neuritis in Turkish children and adolescents: A multicenter retrospective study.

Background: Various etiologies may underlie optic neuritis, including autoantibody-mediated disorders described in the last decade. We re-examined demographic, clinical, laboratory features and prognostic factors in pediatric patients with autoimmune optic neuritis according to current knowledge.

Methods: Cases of pediatric ON from 27 centers in Türkiye diagnosed between 2009 and 2022 were included for retrospective evaluation.

Retrospective evaluation of Guillain-Barre syndrome in children: A single-center experience.

Background: Although Guillain-Barré syndrome (GBS) is now the most common cause of acute flaccid paralysis in children, information on the long-term follow-up of GBS is still limited. Identification of prognostic factors can play an important role in treatment strategies and the follow-up of patients. This study aimed to evaluate the effectiveness of monitoring the GBS disability score (DS) in predicting morbidity and mortality.

A multicenter study of radiologically isolated syndrome in children and adolescents: Can we predict the course?

Objectives: To evaluate clinical characteristics, imaging features and etiological profile of Radiologically Isolated Syndrome (RIS) along with clinical and radiological follow-up.

Methods: Demographic, clinical and radiological data of patients younger than 18 years fulfilling the criteria for RIS were retrospectively analyzed. RIS was defined by the detection of lesions meeting the revised 2010 McDonald Criteria for dissemination in space on magnetic resonance imaging (MRI) in the absence of any symptoms of demyelinating disease or an alternative cause for the MRI findings.

Clinical and Electrophysiological Features Predicting Response to Antiseizure Medications in Juvenile Absence Epilepsy.

Background: We aimed to evaluate the clinical findings and electroencephalographic (EEG) characteristics of patients with juvenile absence epilepsy (JAE) and to determine the factors that predict response to antiseizure medications (ASMs) in JAE.

Methods: We reviewed the medical records of 29 patients with JAE. The patients who were seizure-free during the last 12 months of their follow-up and who did not have generalized spike waves on their last EEG were considered as the treatment-responsive group, and the patients whose clinical seizures persisted during the last 12 months of their follow-up or who had generalized spike waves on their follow-up EEGs were considered as patients who did not respond to ASMs.

A rare case of hypomyelinating leukodystrophy-14 benefiting from ketogenic diet therapy.

Background: Hypomyelinating leukodystrophy-14 (HLD14) is a rarely seen neurodevelopmental disease caused by homozygous pathogenic ubiquitin-fold modifier 1 gene variants. The disease has an autosomal recessive inheritance. All patients with this condition reported to date have drug-resistant epilepsy.

Evaluation of Quality of Life and Psychiatric Aspects of Children with Epilepsy and Their Families Using Self-assessment Questionnaires.

Objective: The aim of this study was to compare sociodemographic characteristics, quality of life, and levels of depression and anxiety of children with epilepsy and their families with a healthy control group.

Materials And Methods: In this study, 60 epileptic children and their families were included. The data of these patients were compared with 51 healthy children and their families.

Psychometric properties of the Turkish version of the Epilepsy Disclosure Scale - Youth and Parent Versions.

Aim: Due to reactions, such as being ridiculed, blamed, or rejected, children with epilepsy and their families may consider epilepsy as something to be ashamed of, and therefore both the child and parents hide the disease from other people. No valid and reliable measurement in Turkish language that evaluates the level of this behavior, which will greatly affect the management of epilepsy, in both children and parents has been found in the literature. This study was carried out to test the validity and reliability of the Epilepsy Disclosure Scale (EDS) - Youth and Parent Versions in Turkey.

A rare central nervous system tumor of childhood with spongiform appearance on brain magnetic resonance imaging; primary diffuse leptomeningeal oligodendrogliomatosis.

Primary diffuse leptomeningeal oligodendrogliomatosis is a rare fatal tumor of childhood. Symptoms usually occur when the tumor causes hydrocephalus. Brain magnetic resonance imaging (MRI) may be nearly normal in the early stages of the disease, while hydrocephalus and multiple leptomeningeal cysts with spongiform appearance may appear later on.

Psychometric properties of a Turkish version of the quality of life in childhood epilepsy questionnaire.

Background: Epilepsy is a neurological disease that requires long-term treatment and monitoring and causes significant restrictions in physical, emotional, intellectual, and social life that negatively affect the quality of life of the individual. This study aimed to test the validity and reliability of the Quality of Life in Childhood Epilepsy Questionnaire in Turkey.

Methods: The study was conducted on 421 parents using a descriptive correlational method.

Inflammation and endothelial dysfunction in pediatric migraine patients.

Background: Inflammation and endothelial dysfunction are the suggested underlying mechanisms in migraine. Pentraxins, C-reactive protein, erythrocyte sedimentation rate, neutrophil to lymphocyte ratio, platelet to lymphocyte ratio are good indicators of inflammation. Alterations in insulin levels and insulin sensitivity may trigger endothelial dysfunction.

The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum.

Objectives: Diagnostic process of mitochondrial disorders (MD) is challenging because of the clinical variability and genetic heterogeneity of these conditions. Next-Generation Sequencing (NGS) technology offers a high-throughput platform for nuclear MD.

Methods: We included 59 of 72 patients that undergone WES and targeted exome sequencing panel suspected to have potential PMDs.

Clinical predictors of drug-resistant epilepsy in children.

Background/aim: In up to 20% of epilepsy patients, seizures may not be controlled despite the use of antiepileptic drugs, either alone or in combination. These individuals are considered to have drug-resistant epilepsy. Drug-resistant epilepsy is usually associated with intellectual disability, psychiatric comorbidity, physical injury, sudden unexpected death, and low quality of life.

A rare central nervous system tumor of childhood with spongiform appearance on brain magnetic resonance imaging; primary diffuse leptomeningeal oligodendrogliomatosis.

Primary diffuse leptomeningeal oligodendrogliomatosis is a rare fatal tumor of childhood. Symptoms usually occur when the tumor causes hydrocephalus. Brain magnetic resonance imaging (MRI) may be nearly normal in the early stages of the disease, while hydrocephalus and multiple leptomeningeal cysts with spongiform appearance may appear later on.

Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey.

Introduction And Purpose: Neuronal ceroid lipofuscinoses (NCLs) is a group of congenital metabolic diseases where the neurodegenerative process with the accumulation of ceroid and lipofuscin autofluorescent storage materials is at the forefront. According to the age of presentation, NCLs are classified as congenital, infantile (INCL), late infantile (LINCL), juvenile (JNCL), and adult (ANCL) NCLs. In our study, it was aimed to discuss the clinical and molecular characteristics of our patients diagnosed with NCL.

Benefits of ketogenic diet in a pediatric patient with Ehlers-Danlos syndrome and related epileptic encephalopathy.

Purpose/aim: Ehlers-Danlos syndrome (EDS) is a hereditary connective tissue disease. Epilepsy is not a common neurological finding in EDS. Here we report a pediatric patient with EDS comorbid with related epileptic encephalopathy as 'electrical status epilepticus during slow-wave sleep (ESES)' and whose refractory epileptic seizures were controlled with ketogenic diet.

Expanding the spectrum of VAC14 related pediatric-onset neurological disease; striatonigral degeneration with brainstem involvement.

VAC14 related childhood-onset striatonigral degeneration was first defined in 2016 in two unrelated children with sudden onset neurological disease and regression of developmental milestones. Up to now, 11 cases have been reported. VAC14 is a component of a trimolecular complex that tightly regulates the level of phosphatidylinositol 3,5-bisphosphate (PI (3, 5)P2) and PI (3, 5)P2 is critical for the survival of neural cells.

Intravenous Levetiracetam for Treatment of Seizures in Term and Preterm Neonates.

Context: Seizures are the most frequent neurological disturbance in the neonatal period, and there are no evidence-based guidelines for the treatment of neonatal seizures. Here we report a study on the use of levetiracetam as second-line therapy in the treatment of seizures in term and preterm neonates.

Aim: The aim of this study was to assess the efficacy and safety of levetiracetam for seizures of term and preterm neonates.

Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA.

Background: Dropped head syndrome is an easily recognizable clinical presentation of Lamin A/C-related congenital muscular dystrophy. Patients usually present in the first year of life with profound neck muscle weakness, dropped head, and elevated serum creatine kinase.

Case Description: Two patients exhibited head drop during infancy although they were able to sit independently.

Schwartz-Jampel syndrome with gastroduodenal bleeding.

Schwartz-Jampel syndrome is a rare autosomal recessive disorder with joint contractures, generalized myotonia, skeletal anomalies, and facial dysmorphism. The patients with Schwartz-Jampel syndrome have muscle stiffness and electromyography reveals complex, repetitive discharges as myotonic discharges. It is unusual for a Schwartz-Jampel syndrome case to have recurrent gastrointestinal bleeding episodes.

Myelin Oligodendrocyte Glycoprotein Antibody Persistency in a Steroid-Dependent ADEM Case.

Myelin oligodendrocyte glycoprotein (MOG) is a candidate target antigen in demyelinating central nervous system diseases, including acute disseminated encephalomyelitis (ADEM), neuromyelitis optica, and multiple sclerosis. It may give prognostic information regarding monophasic or recurrent course of the disease. MOG antibodies have been shown to be positive in high titers during the first episode of ADEM with rapidly decreasing to undetectable limits after recovery.

Posterior reversible leukoencephalopathy syndrome with spinal cord involvement in a 9-year-old girl.

We report the youngest pediatric case of posterior reversible leukoencephalopathy syndrome confined to brainstem and spinal cord. At presentation bicytopenia, renal derangement, visual disturbances, magnetic resonance imaging findings, increased protein content, IgG index and cell count in the cerebrospinal fluid led us to extensive search for myelitis. She received a short course of steroid treatment.

Parieto-occipital encephalomalacia in children; clinical and electrophysiological features of twenty-seven cases.

Context: Brain injuries occurring at a particular time may cause damages in well-defined regions of brain. Perinatal hypoxic ischemic encephalopathy and hypoglycemia are some of the most common types of brain injuries. Neonatal hypoglycemia can cause abnormal myelination in parietal and occipital lobes resulting in parieto-occipital encephalomalacia.