Stigma, seizure self-efficacy, and quality of life in children with epilepsy.

Introduction: In addition to seizure care, it has been well-established that a holistic approach to the treatment of children with epilepsy that addresses the social, behavioral, and psychological dimensions also benefits their quality of life (QoL). The aim of this study was to investigate the patient and parental perceived stigma, seizure self-efficacy of children with epilepsy, and the relationship with quality of life in terms of sociodemographic and epilepsy-related factors.

Method: The study group consisted of children, aged between 8 and 18 years and with a diagnosis of epilepsy of at least six months duration and their parents.

Hyperekplexia: A Single-Center Experience.

Background: Hyperekplexia is a rare neurogenetic disorder that is classically characterized by an exaggerated startle response to sudden unexpected stimuli. This study aimed to determine clinical and genetic characteristics of our patients with hyperekplexia.

Methods: The age of onset and diagnosis, familial and perinatal history, clinical course, complications, metabolic screening tests, magnetic resonance imaging (MRI), medications, neuropsychometric evaluations, and gene mutations of patients diagnosed with hyperekplexia were reviewed retrospectively.

The role of certain perinatal features in the early motor repertoire of infants.

Background: Lower gestational age negatively affects the neurodevelopmental outcomes of infants. Early motor repertoire is a reliable way to predict neurodevelopmental outcomes. This study aimed to determine the correlation between gestational age and early motor repertoire in infants and also the roles of multiple pregnancies, gender, cranial utrasonography (USG) results, and birth weight in this relationship.

Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.

Pontocerebellar hypoplasia (PCH) is a heterogeneous group of neurodegenerative disorders characterized by hypoplasia and degeneration of the cerebellum and pons. We aimed to identify the clinical, laboratory, and imaging findings of the patients with diagnosed PCH with confirmed genetic analysis. We collected available clinical data, laboratory, and imaging findings in our retrospective multicenter national study of 64 patients with PCH in Turkey.

Case report: Thrombotic microangiopathy in pediatric multisystem inflammatory syndrome associated with COVID-19: a case series.

Introduction: This report provides insight into three distinct pediatric cases exhibiting a nexus between multisystem inflammatory syndrome in children (MIS-C) and thrombotic microangiopathy (TMA) triggered by COVID-19. The aim is to underscore the range of clinical presentations and the essentiality of early interventions.

Case Presentations: This report presents three cases aged 10 months, 7 years, and 3 years with persistent fever, diarrhea, nausea, and vomiting.

Syndrome of megalencephaly, mega corpus callosum, and complete lack of motor development: an unusual case and a literature review.

The syndrome of megalencephaly, mega corpus callosum (MEG-MegaCC) accompanied by complete lack of motor development is a rare condition with only few sporadic cases having been reported in the literature. In this paper, we describe a child from non-consanguineous parents presenting with MegaCC, psychomotor retardation, and language impairment linked to MEG-MegaCC syndrome. Genetic analysis, radiological findings, and detailed neurological phenotype of MEG-MegaCC syndrome with its overlapping syndromes would allow for a better classification of the disease spectrum.

Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children.

Background: Myotonia congenita is the most common form of nondystrophic myotonia and is caused by Mendelian inherited mutations in the CLCN1 gene encoding the voltage-gated chloride channel of skeletal muscle.

Objective: The study aimed to describe the clinical and genetic spectrum of Myotonia congenita in a large pediatric cohort.

Methods: Demographic, genetic, and clinical data of the patients aged under 18 years at time of first clinical attendance from 11 centers in different geographical regions of Türkiye were retrospectively investigated.

Serum Zonulin Levels in Pediatric Migraine.

Background: Migraine is a complex neurogenic inflammatory disorder. There are strong neuronal, endocrine, and immunologic connections between the brain and gastrointestinal system. Damage to the intestinal barrier is thought to cause systemic immune dysregulation.

A Case with NAD(P)HX Dehydratase (NAXD) Deficiency: A Newly Defined Mutation in a Novel Neurodegenerative Disorder.

Introduction: Nicotinamide adenine dinucleotide (NAD) and nicotinamide adenine dinucleotide phosphate (NADP) are required redox equivalents for essential biochemical reactions. Their hydrated forms, NADHX and NAD(P)HX, are inhibitors for several dehydrogenases and cause harmful byproducts. NAD(P)HX dehydratase (NAXD) and NAD(P)HX epimerase (NAXE) together form the nicotinamide repair system.

Combined immunoglobulin and plasmapheresis treatment for Febrile Infection-Related Epilepsy Syndrome (FIRES).

Febrile infection-related epilepsy syndrome (FIRES) is a rarely observed and destructive syndrome progressing with resistant seizures or refractory status epilepticus. In this report we present in a treatment procedure with plasmapheresis of a pediatric patient with FIRES and currently unknown etiology in order to contribute to the literature.

How did the COVID-19 Pandemic Affect Pediatric Neurologists?

Background: In addition to physical health, pandemics affect mental health. The aim was to reveal problems encountered during the coronavirus disease 2019 (COVID-19) pandemic by pediatric neurologists and pediatric neurology residents in Turkey.

Methods: Participants were sent a survey form using Google Forms between November 05, 2020, and December 07, 2020.

Neuroimaging Findings in Pediatric Patients with Thalassemia Major.

Background: Cranial magnetic resonance imaging (MRI) studies about iron accumulation in children with thalassemia major are quite limited.

Aim: This study aimed to detect neurological findings with cranial MRIs in the pediatric patients with thalassemia major who did not develop any neurological complications.

Materials And Methods: Pediatric patients with thalassemia major who followed in the Pediatric Hematology Unit between 1 July 2017 and 1 January 2019 were included in the study.

A Rare Pediatric Case of Severe Rhabdomyolysis Owing to Dual Infection.

Aim: We aimed to report a severe and rare pediatric rhabdomyolysis case associated with a dual viral infection.

Case: A 13 year-old, healthy girl presented with the complaints of fever, abdominal pain, weakness and dark-colored urine. She was diagnosed with rhabdomyolysis based on clinical signs and laboratory findings.

Early Neurologic Complications and Long-term Neurologic Outcomes of Extracorporeal Membrane Oxygenation Performed in Children.

Background: We aimed at evaluating acute neurologic complications (ANC) and clinical outcome at a 2-year follow-up in children after extracorporeal membrane oxygenation (ECMO).

Methods: 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.

Associations Between Transcranial Doppler Flow Velocities, Laboratory Parameters, and Clinical Features in Turkish Children With Sickle Cell Disease.

Objective: Stroke is one of the major complications of sickle cell disease (SCD). Stroke features either occlusion of, or stenosis at, the origin of one of the large intracerebral arteries, the internal carotid artery (ICA), and/or the middle cerebral artery (MCA).

Purpose: We sought correlations between cerebral blood flow velocities and the laboratory and clinical findings of patients with SCD.

A case of fulminant pneumococcus meningoencephalitis progressing with white matter involvement despite two doses of conjugated pneumococcus vaccine.

Background: Streptococcus pneumonia is a cause of serious mortality and morbidity, especially among small children. However, currently, it causes lower rates of invasive infections due to successful vaccination programs Case. We report an exceptional case of a 6-month-old child with meningoencephalitis caused by Streptococcus pneumonia despite the administration of two doses of pneumococcal conjugate vaccine (PCV).

Assessment of PELOD-2 and PIM-3 scores of children coming from the war in Syria.

Objectives: Since the civil war in Syria began, millions of Syrians have left the country and been forced to migrate to other countries. Turkey is the country with the most refugees hosting 3.6 million refugees.

Sublingual Atropine Sulfate Use for Sialorrhea in Pediatric Patients.

Sialorrhea is a frequent problem and may lead to aspiration in patients with swallowing dysfunction. We aimed to assess the effectiveness and safety of sublingual atropine sulfate treatment in pediatric patients with sialorrhea. The medical records of patients who had received sublingual atropine sulfate between January 2015 and January 2016 were reviewed retrospectively.

Hashimoto's encephalopathy in children: different manifestations of five cases.

Hashimoto's encephalopathy (HE) is a rare, poorly understood, progressive and relapsing, steroid-responsive multiform disease. HE presents with subacute cognitive dysfunction, psychiatric symptoms, seizures, and movement disorders. The disorder is usually related to thyroid disease and the most frequent feature is the presence of anti-thyroperoxidase antibodies.

Effects of levetiracetam and valproic acid treatment on liver function tests, plasma free carnitine and lipid peroxidation in childhood epilepsies.

Background And Aims: The relationship between anti-epileptic usage and oxidative damage has not yet been clearly understood. In our study, we investigated oxidative stress parameters, carnitine levels, liver function tests (LFT) and their relationship in epileptic children treated with valproic acid or levetiracetam.

Method: LFTs, serum free carnitine and oxidative damage markers and their relations with each other were determined in patients who are on valproic acid or levetiracetam treatment at least for 6 months.

A case of Dravet Syndrome with a newly defined mutation in the SCN1A gene.

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.