Lipoprotein Receptor-Related Protein 4 Antibody Positivity in the Youngest Patient in the Caucasus Region: A Case Report.

Juvenile myasthenia gravis is a rare disorder where antibodies targeting the acetylcholine receptor or, less frequently, muscle-specific kinase can be detected in the serum while about half of the patients can be seronegative. A pediatric patient with ocular myasthenia is presented whose serum was negative for acetylcholine receptor and muscle-specific kinase antibodies but tested positive for low-density lipoprotein receptor-related protein 4 antibodies. A favourable clinical response was observed to medical treatment with pyridostigmine and prednisolone, as expected in isolated ocular juvenile myasthenia gravis.

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.

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.

Proteomic Investigation of Differential Interactomes of Glypican 1 and a Putative Disease-Modifying Variant of Ataxia.

In a currently 13-year-old girl of consanguineous Turkish parents, who developed unsteady gait and polyneuropathy at the ages of 3 and 6 years, respectively, we performed whole genome sequencing and identified a biallelic missense variant c.424C>T, p.R142W in glypican 1 () as a putative disease-associated variant.

Assessment of Ecotropic Viral Integration Site 2B (EVI2B) Gene in Juvenile Myelomonocytic Leukemia and Neurofibromatosis Type 1 NF1 Tumors.

Neurofibromatosis type 1 (NF1) is an autosomal dominant disease that affects the development and growth of various tissues. NF1 is a major risk factor for the development of malignancies, particularly malignant peripheral nerve sheath tumors, optic gliomas, and leukemia. NF1 encodes a neurofibromin.

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.

Narrative review based on fingolimod therapy in pediatric MS.

The course of pediatric-onset multiple sclerosis and adult multiple sclerosis shows some clinical differences. The rate of having a second attack after the first clinical event is 80% in children and around 45% in adults but the time to the second event is similar in all age groups. The pediatric group usually has a more aggressive onset than adults.

A combination of Q-TOF LC/MS and LC-MS/MS based metabolomics in pediatric-onset multiple sclerosis demonstrates potential biomarkers for unclassified patients.

Background: Metabolomics has the potential to provide putative biomarkers and insights into the pathophysiology and diagnosis of pediatric multiple sclerosis (pMS), which is an inflammatory demyelinating disorder of the central nervous system with a broad spectrum of clinical manifestations. In this study, we aimed to investigate serum metabolomics in pMS to help elucidate the pathophysiology of MS.

Methods: An untargeted approach was applied using the quadrupole time-of-flight liquid chromatography/mass spectrometry (Q-TOF LC/MS) method to study plasma metabolites in patients with pMS (n = 33), patients with unclassified central nervous system demyelinating diseases (n = 6), and age-matched healthy control subjects (n = 40).

Temporal Dynamics of MOG Antibodies in Children With Acquired Demyelinating Syndrome.

Background And Objective: The spectrum of myelin oligodendrocyte glycoprotein (MOG) antibody-associated disorder (MOGAD) comprises monophasic diseases such as acute disseminated encephalomyelitis (ADEM), optic neuritis (ON), and transverse myelitis and relapsing courses of these presentations. Persistently high MOG antibodies (MOG immunoglobulin G [IgG]) are found in patients with a relapsing disease course. Prognostic factors to determine the clinical course of children with a first MOGAD are still lacking.

Clinical features and outcomes of opsoclonus myoclonus ataxia syndrome.

Objectives And Methods: Opsoclonus myoclonus ataxia syndrome (OMAS) is a rare neuroinflammatory disorder. We aimed to retrospectively evaluate clinical and laboratory data and outcomes of 23 children diagnosed with OMAS in two children's hospitals between 2010 and 2021.

Results: There were 14 boys and 9 girls aged 4-113 months, median 24 months.

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.

Clinical evaluation of muscle functions in neurofibromatosis type 1.

Aim: Muscle weakness, fatigue and speech problems can occur in neurofibromatosis type 1 (NF1). The pathogenesis of these symptoms is unclear, likely multifactorial. We examined motor function in limb and speech muscles in NF1 patients.

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).

Newer disease modifying treatments in pediatric onset multiple sclerosis: Experience from a single center.

Background: Disease modifying treatments (DMTs) for multiple sclerosis include injectable drugs (iDMTs) like interferons (IFNs) or glatiramer acetate (GA), and newer agents (nDMTs) in oral and intravenous forms. nDMTs are usually applied in escalation and less frequently as initial treatment in pediatric-onset (POMS).

Objective: We intended to evaluate the effect of nDMTs in comparison with iDMTs by retrospective examination of our patients with POMS.

The Outcome of COVID-19 in Pediatric-Onset Multiple Sclerosis Patients.

Background: The pathogenesis of multiple sclerosis (MS) involves immune-mediated mechanisms, and disease-modifying therapies (DMTs) administered in MS have immunomodulatory effects. The concern about MS patients' susceptibility to coronavirus disease 2019 (COVID-19) has prompted several studies based on clinical observations and questionnaires. Information about COVID-19 in pediatric-onset multiple sclerosis (POMS) is scarce.

Myelin oligodendrocyte glycoprotein antibodies in genetic leukodystrophies.

Accumulation of intermediate metabolites due to enzyme deficiencies and demyelination can provoke inflammation in genetic leukodystrophies. Thirty patients with genetic leukodystrophy and 48 healthy control sera were tested for anti-myelin oligodendrocyte glycoprotein (MOG) antibodies by fixed and/or live cell-based assays. MOG-IgG was detected in two late infantile metachromatic leukodystrophy (MLD) cases, both of which were also weakly positive for IgG1, and one with IgG3 as the dominant anti-MOG IgG subclass.

Options in the Treatment of Subacute Sclerosing Panencephalitis: Implications for Low Resource Areas.

Purpose Of The Review: Subacute sclerosing panencephalitis (SSPE) is a rare, slowly progressive, and frequently fatal neurodegenerative disorder caused by measles virus. The risk of SSPE remains significant globally, with fluctuating incidence noted in in tandem with measles vaccine uptake. This review aims to explore the current global status of SSPE, its treatment, and preventive measures.

Relationship among four functional classification systems and parent interpredicted intelligence level in children with different clinical types of cerebral palsy.

Objective: To investigate the relationships between four functional classification systems in children with cerebral palsy (CP) and parent-interpredicted intelligence level, and the functional status in clinical types of CP.

Methods: Two hundred and twenty-five children with CP ages between 2 and 18 (mean age 6.5 ± 4.

New-Onset Ocular Myasthenia after Multisystem Inflammatory Syndrome in Children.

Neurologic complications have been associated with multisystem inflammatory syndrome in children, possibly involving autoimmune mechanisms. Here, we report a 6-year-old girl who developed myasthenia 11 weeks after severe acute respiratory syndrome coronavirus 2 infection and 8 weeks after the onset of severe multisystem inflammatory syndrome in children.