Evaluation of seizure semiology, genetics, magnetic resonance imaging, and electroencephalogram findings in children with Rett syndrome: A multicenter retrospective study.

Objectives: This study aimed to evaluate seizure semiology, electroencephalogram (EEG), magnetic resonance imaging (MRI), and genetic findings, as well as treatment choices in Rett syndrome (RTT).

Methods: A retrospective analysis was conducted on one hundred and twenty cases diagnosed with RTT with a genetic mutation. Data were obtained from nine participating centers.

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.

Clinical and laboratory findings and etiologies of genetic homocystinemia: a single-center experience.

Background: Homocysteine (Hcy) is an endogenous nonprotein sulfur-containing amino acid biosynthesized from methionine by the removal of its terminal methyl group. Hyperhomocysteinemia (HHcy) has been linked to many systemic disorders, including stroke, proteinuria, epilepsy, psychosis, diabetes, lung disease, and liver disease. The clinical effects of high serum Hcy level, also known as hyperhomocysteinemia, have been explained by different mechanisms.

Late effects of medulloblastoma treatment: multidisciplinary approach of survivors.

Purpose: Medulloblastoma is one of the brain tumors with increased life expectancy due to improvements in treatment approaches. Besides the promising results, various undesirable effects can be encountered. This study's aim is to review long-term follow-up outcomes of our cases with medulloblastoma.

Role of serostatus in pediatric neuromyelitis optica spectrum disorders: A nationwide multicentric study.

Background: Neuromyelitis optica spectrum disorders (NMOSD) are immune-mediated inflammatory disorders of the central nervous system (CNS) mostly presenting as optic neuritis and acute myelitis. NMOSD can be associated with seropositivity for aquaporin 4 antibody (AQP4 IgG), myelin oligodendrocyte glycoprotein antibody (MOG IgG), or can be seronegative for both. In this study, we retrospectively examined our seropositive and seronegative pediatric NMOSD patients.

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.

Five Years Follow-up of Opsoclonus-Myoclonus-Ataxia Syndrome-Associated Neurogenic Tumors in Children.

Aim: Opsoclonus-myoclonus-ataxia syndrome (OMAS) is a rare autoimmune disorder. Approximately half of the cases are associated with neuroblastoma in children. This study's aim is to review management of our cases with OMAS-associated neuroblastoma for treatment approach as well as long-term follow-up.

Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study.

Background: Although the underlying genetic causes of intellectual disability (ID) continue to be rapidly identified, the biological pathways and processes that could be targets for a potential molecular therapy are not yet known. This study aimed to identify ID-related shared pathways and processes utilizing enrichment analyses.

Methods: In this multicenter study, causative genes of patients with ID were used as input for Disease Ontology (DO), Gene Ontology (GO), and Kyoto Encyclopedia of Genes and Genomes enrichment analysis.

Re-examining the characteristics of pediatric multiple sclerosis in the era of antibody-associated demyelinating syndromes.

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.

First pediatric case with primary familial brain calcification due to a novel variant on the MYORG gene and review of the literature.

Variants in the myogenesis-regulating glycosidase (MYORG) gene which is known as the first autosomal recessive gene that has been associated with primary familial brain calcification (AR-PFBC). Although adult patients have been reported, no pediatric case has been reported until now. Herein, we review the clinical and radiological features of all AR- PFBC patients with biallelic variants in the MYORG gene who were reported until now, and we report the youngest patient who has a novel homozygous variant.

Single gene, two diseases, and multiple clinical presentations: Biotin-thiamine-responsive basal ganglia disease.

Aim: To present seven new genetically confirmed cases of biotin-thiamin-responsive basal ganglia disease (BTBGD) with different clinical and brain magnetic resonance imaging (MRI) characteristics.

Material And Methods: Genetic variants, clinical presentations, brain MRI findings, treatment response, and prognosis of seven selected patients with BTBGD, diagnosed with SLC19A3 mutations were described.

Results: Among seven patients diagnosed with BTBGD, two had early infantile form, four had classic childhood form, and one was asymptomatic.

Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect.

MBOAT7 gene codes O-acyltransferase domain containing seven proteins which is one of four enzymes involved in remodeling of phosphoinositol phosphate (PIP) in LANDs cycle. We present clinical, neuroimaging, and genetic findings of 12 patients from 7 families with MBOAT7 gene defect, a recently defined novel phospholipid remodelling disease. To the best of our knowledge, our case series is the second report on patients with MBOAT7 gene defect.

Endovascular Treatment of a Patient with Moyamoya Disease and Seckel Syndrome: A Case Report.

Seckel syndrome and Moyamoya diseases are different entities that rarely associated with each other. Several cases presenting with both these diseases were reported. Intracerebral artery aneurysms and collateral vessels can be seen with Moyamoya.

Correction to: Overview of therapeutic plasma exchange in pediatric neurology: a single-center experience.

Unfortunately, the immediate following sentences were incorrectly published in Material and Method section of the original article.

Overview of therapeutic plasma exchange in pediatric neurology: a single-center experience.

Therapeutic plasma exchange (TPE) is used in the treatment of neurological, hematological, renal and autoimmune diseases with known or suspected immune pathogenesis. In comparison with neurological diseases of adults, knowledge about the use of TPE in children is incomplete. We report our experience on TPE in children with neurological diseases in a single institution and describe the underlying etiology, clinical course, treatment and outcome.

Electroencephalographic findings in anti-N-methyl-d-aspartate receptor encephalitis in children: A series of 12 patients.

Objective: Anti-N-methyl-d-aspartate receptor encephalitis (a-NMDARe) is an acute or subacute encephalopathy where electroencephalogram (EEG) is frequently obtained as part of the workup. Although no diagnostic EEG finding has been described so far, the definition of specific or typical patterns might help to distinguish this group among various encephalopathies of childhood. We examined EEG recordings of our patients with a-NMDARe in order to describe the most frequent findings.

Clinical presentation of anti-N-methyl-d-aspartate receptor and anti-voltage-gated potassium channel complex antibodies in children: A series of 24 cases.

Objective: The symptomatology and paraclinical findings of antibody-mediated encephalitis, a relatively novel disorder, are still being characterized in adults and children. A high index of suspicion is needed in order to identify these cases among children presenting with various neurological symptoms. The aim of this study is to examine the clinical, demographic and laboratory findings and outcome of children with anti-NMDAR and anti-VGKC encephalitis for any typical or distinctive features.

Narcolepsy and cataplexy: a pediatric case report.

Narcolepsy is characterized by excessive sleepiness, cataplexy, hypnagogic hallucinations, and sleep paralysis during the rapid eye movement period of sleep. Herein, we present a boy aged eight years who was diagnosed as having narcolepsy and cataplexy about thirteen months after his first presentation. He was admitted with symptoms of daytime sleepiness.

Sadfly fever: two case reports.

Sandfly fever, also known as 'three-day fever' or 'pappataci fever' or 'Phlebotomus fever' is a viral infection that causes self-limited influenza-like symptoms and characterized by a rapid onset. The disease occurs commonly in endemic areas in summer months and especially in August during which sandflies are active. In this article, two siblings who presented with high fever, redness in the eyes, headache, weakness, malaise and inability to walk, who were found to have increased liver function tests and creatine kinase levels and who were diagnosed with sadfly fever with positive sadfly IgM and IgG antibodies are reported because of the rarity of this disease.

Optic neuritis as a presenting symptom of Mycoplasma pneumoniae infection.

A broad range of neurologic disorders has been described in children infected with Mycoplasma pneumoniae, of which encephalitis is among the most common. In contrast, the association between optic neuritis and Mycoplasma pneumoniae infection has been rarely described in children. We report a case of a 12-year-old girl who was seropositive for antibodies against Mycoplasma pneumoniae and presented with optic neuritis without respiratory symptoms or other neurologic findings.

Serum vitamin B12, folic acid, and homocysteine levels in children with febrile seizure.

The aim of this study is to investigate the associations between febrile seizure and serum levels of vitamin B12, folic acid, and homocysteine. One hundred and four children who presented with febrile seizure and 75 controls who presented with febrile illness unaccompanied by seizure were enrolled into the study. Mean levels of vitamin B12, folic acid and homocysteine were compared between two groups.

Neuromyelitis optica mimics the morphology of spinal cord tumors.

Neuromyelitis optica (NMO) is an autoimmune disorder of the central nervous system, that predominantly affects the spinal cord and the optic nerve. Its key features include transverse myelitis, commonly associated with extensive inflammation spanning three or more consecutive vertebral segments. Longitudinal extensive spinal cord lesions can also occur in systemic autoimmune diseases, infections, vascular and metabolic disorders, subsequent to irradiation, intramedullary tumors and paraneoplastic myelopathies.

Tuberous sclerosis complex; single center experience.

Aim: This study was planned with the aim of retrospectively reviewing the clinical and laboratory findings and therapies of our patients diagnosed with tuberous sclerosis and redefining the patients according to the diagnostic criteria revised by the 2012 International Tuberous Sclerosis Complex Consensus Group and comparing them with the literature.

Materials And Method: Twenty patients diagnosed with tuberous sclerosis complex in the Pediatric Neurology Clinic were examined retrospectively in terms of clinical findings and therapies. The diagnoses were compared again according to 1998 and 2012 criteria.