Magdalena Chrościńska-Krawczyk

Introduction and objective: Autoimmune encephalitis (AE) is an inflammatory disorder in which the immune system attacks brain tissue, causing central nervous system (CNS) dysfunction. In children, it often manifests as seizures, behavioural changes, memory impairment and involuntary movements....

Background: Pseudotumor cerebri syndrome (PTCS) is characterized by elevated intracranial pressure in the setting of normal cerebrospinal fluid composition and normal or typically altered neuroimaging, once secondary causes have been excluded. In adults the disease classically affects young obese women, but in children the demographic profile is more heterogeneous, with prepubertal patients frequently being non-obese and of either sex. Early recognition is essential because untreated PTCS can cause irreversible visual loss, yet the condition is easily overlooked when the clinical presentation deviates from the adult stereotype. Case presentation: A 6-year-10-month-old prepubertal boy with a history of recurrent upper respiratory tract infections presented with a three-week history of abdominal pain, headache, vomiting, and double vision. Body mass index was 13.67 kg/m² (non-obese). Fundoscopy disclosed bilateral optic disc edema, and visual acuity was mildly reduced to 0.7 in the right eye and 0.5 in the left eye, although the child did not report visual symptoms. Magnetic resonance imaging of the brain, orbits, and whole spine was unremarkable, and computed tomography findings of low-lying cerebellar tonsils were not confirmed on MRI. Diagnostic lumbar puncture yielded clear, colorless cerebrospinal fluid with normal biochemistry and negative infectious and autoimmune workup. Acetazolamide, intravenous mannitol, and therapeutic lumbar puncture were followed by complete visual recovery (1.0 in each eye) and regression of papilledema within two weeks. Respiratory syncytial virus was treated with supportive care and amoxicillin-clavulanate because of suspected bacterial superinfection. Discussion: This case illustrates three teaching points: PTCS must be considered in prepubertal non-obese children regardless of sex; visual impairment may develop silently and recover fully with prompt treatment; and a normal brain MRI does not exclude the diagnosis, which rests on the combination of clinical features, papilledema, cerebrospinal fluid findings, and exclusion of mimics. Conclusion: Clinicians should maintain a low threshold for fundoscopy and lumbar puncture in any child with suggestive symptoms, irrespective of demographic profile, because timely treatment can prevent permanent visual loss even when the child does not report visual symptoms.

Background: PURA syndrome is a rare neurodevelopmental disorder caused by heterozygous pathogenic variants in the PURA gene, characterized by neonatal hypotonia, epilepsy, and developmental delay. Diagnostic delay is common when acquired neonatal insults co-exist and mask the underlying genetic etiology. Methods: We describe a 6-year-old boy with a de novo PURA c.345_346del (p.Asp116LeufsTer84) variant identified by trio clinical exome sequencing after negative SCO2 sequencing and chromosomal microarray. Clinical course, EEFeG, neuroimaging, and 6-year follow-up were analyzed retrospectively. Results: The patient presented with hypotonia, feeding difficulties, and neonatal seizures complicated by bacterial meningitis, grade I intraventricular hemorrhage, and hyperbilirubinemia. Seizures evolved into refractory epilepsy with tonic, hypermotor, and focal impaired awareness seizures despite four antiseizure medications. Additional features included non-verbal status, GMFCS V, strabismus, cryptorchidism, and hypothyroidism requiring replacement therapy. Conclusion: Co-occurring acquired insults may mask monogenic etiology and prolong diagnostic odyssey. Early access to exome sequencing and multidisciplinary follow-up are critical for family counseling and care planning.

Background: Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) can overlap clinically and radiologically with pediatric-onset multiple sclerosis (MS). Transient cerebrospinal fluid (CSF) oligoclonal bands (OCBs), which may substitute for dissemination in time under the 2017 McDonald criteria, can contribute to diagnostic misclassification when interpreted without disease-specific serology. Case Presentation: A 15-year-old girl presented with binocular diplopia, dysarthria, and balance impairment. Brain MRI showed multiple non-enhancing lesions, and spinal MRI demonstrated multilevel intramedullary lesions. CSF was acellular with CSF-restricted OCBs. The findings were interpreted as fulfilling the 2017 McDonald criteria, and interferon beta-1b was initiated. At month 9, serum MOG-IgG was positive by cell-based assay (titer 1:100), while AQP4-IgG was negative. At month 14, the cerebral lesions had resolved completely, repeat CSF OCB testing was negative, and MOG-IgG remained positive. The diagnosis was reclassified as MOGAD, interferon beta-1b was discontinued, and maintenance intravenous immunoglobulin was initiated at month 18. At month 30, the patient remained clinically stable with an EDSS score of 0; the last documented MOG-IgG result at month 25 remained positive. Discussion: The longitudinal combination of transient OCB positivity and complete radiological resolution of extensive brain lesions prompted diagnostic reassessment. The case illustrates why formal fulfillment of MS criteria should be integrated with the clinical phenotype, disease-specific antibody testing, and serial MRI findings in pediatric demyelinating disease. Conclusions: Early serum MOG-IgG testing should be considered in children with a first demyelinating event, particularly when the phenotype or subsequent MRI evolution is atypical for MS. CSF OCB positivity should not be regarded as disease-specific evidence of MS in isolation.

Autoimmune-associated epilepsy (AAE) is the epilepsy phenotype most likely to be missed in neurology clinics. Neural autoantibodies are identified in a substantial fraction of adults with epilepsy of unknown aetiology, mostly undiagnosed before testing, and in a sizeable proportion of new-onset refractory status epilepticus (NORSE) and febrile infection-related epilepsy syndrome (FIRES). The barrier to recognition is not the absence of effective therapy, but the absence of systematic testing: autoimmune epilepsy is not rare; it is rarely tested. This review argues for a shift from antibody-driven testing ("test when encephalitis is suspected") to syndrome-driven testing ("epilepsy-plus" phenotypes triggering a reflex panel). We synthesise the 2016-2026 literature across three axes. First, an antibody-by-antibody guide (Table 1) contrasts surface-antigen syndromes (LGI1, NMDAR, CASPR2, GABA-B, GABA-A, AMPA) with the intracellular-antigen GAD65 syndrome. Second, a twelve-domain Red Flag Checklist (Table 2) operationalises the "epilepsy-plus" concept, with a ≥2-flag trigger rule mandating reflex testing of paired serum and cerebrospinal fluid. Third, a 2026 immunotherapy algorithm (Table 3) stratifies first-line, second-line, and refractory therapy on the principle that timing is the active ingredient. We address three ongoing debates - GAD65 low- versus high-titre pathogenicity, seronegative AAE, and immunotherapy duration - proposing a risk-stratified, treat-to-remission framework. The cost of delay is measurable in hippocampi, cognitive function, and lives; the barrier is not cost but habit.

Objective: This case study reports a decade-long (2016–2026) follow-up of a girl with gene-confirmed SCN2A-related developmental and epileptic encephalopathy (DEE) in whom the ketogenic diet (KD) was used as primary therapy after failure of eight sequential antiseizure regimens. Methods: Retrospective analysis of hospital records (2013–2026) covering perinatal history, genetic diagnosis, drug therapy, dietary protocol modifications, and serial laboratory, imaging, and electrophysiological surveillance. Results: Classic KD initiated at age 2 years 9 months produced rapid seizure reduction (>50%), enabling complete withdrawal of all conventional ASMs by February 2017. The diet was maintained continuously for over 10 years, including through emergency craniotomy for traumatic intracranial hemorrhage in April 2018. Adjunctive CBD/THC oil was used from 2017, with a transient valproate retrial in December 2022. Multisystem complications (hypercalciuria, lumbar osteopenia with BMD Z-score −2.7, transient dyslipidemia) were managed with potassium citrate, vitamin D3/calcium supplementation, and dietary ratio adjustments; no nephrolithiasis or KD-attributable cardiac complications occurred. Growth remained within normal range without gastrostomy. Conclusions: Long-term KD as primary non-pharmacological therapy is feasible and safe in SCN2A-related DEE, permitting complete ASM cessation, provided multidisciplinary metabolic and bone surveillance is maintained.

Background: Post-COVID syndrome (PCS) is characterized by persistent symptoms following infection, most notably "brain fog." Affecting approximately 5-15% of individuals in recent vaccinated cohorts-and up to 30% in early pandemic studies-brain fog significantly impairs professional, educational, and daily functioning. Its underlying biological mechanisms remain unclear, partly due to heterogeneous case definitions and study designs. Methods: We conducted a narrative, hypothesis-driven review of PubMed, Web of Science and Scopus from 2019 to January 2026, focusing on human mechanistic studies of PCS-related cognitive dysfunction. Findings: Several human cohorts describe persistence of SARS-CoV-2 spike antigen in plasma months after infection. Studies associate this with three overlapping pathways: (1) formation of fibrin amyloid microclots with impaired fibrinolysis in vitro; (2) increased blood-brain barrier permeability linked to elevated MMP-9 and oxidative stress markers in blood and CSF; and (3) sustained microglial and astrocytic reactivity with elevated cytokines. Evidence is largely cross-sectional and mechanistic data derive mostly from small studies. The specificity and causal role of microclots in post-COVID syndrome remain contested in recent reviews. Interpretation: We outline a testable integrative model in which microvascular injury, blood-brain barrier disruption and neuroinflammation may contribute to persistent cognitive symptoms in PCS. The model remains hypothetical, as current data are largely cross-sectional and derive partly from in vitro work. Longitudinal studies with biomarker stratification are needed before mechanism-based interventions can be evaluated.

Introduction: Epilepsy is a chronic brain disorder causing recurrent seizures as a result of abnormal electrical brain activity. Approximately 70 million people worldwide suffer from it and need antiseizure treatment. The diagnosis and assessment of the effectiveness of the therapy are mainly based on symptoms described by a witness or a patient, which is a method of low reliability. The review aims to evaluate available markers of antiseizure drugs’ efficacy, highlighting those that could support the proper course of treatment. Results: Comparing the available studies was very challenging. There were significant differences across the groups enrolled in the studies regarding the type of epilepsy included, the patient inclusion criteria, and the total number of patients. Moreover, most of the trials have been conducted on adults, not on children. Conclusions: Drug selection and their dosage are mainly based on the relationship between patients and their caregivers. Additionally, electroencephalography (EEG) and antiseizure medication (ASM) concentrations are assessed, but according to many studies, none of the applied methods are sufficient for the diagnostic and therapeutic process to be based on.