Knowledge in the spectrum of epidermal nevi and epidermal nevus syndrome has been elaborated on and expanded rapidly through the years. In this review, we provide a comprehensive overview of the neurologic manifestations of epidermal nevus syndromes (ENS), with a particular focus on epilepsy, which represents one of the most disabling and frequent systemic complications. Although ENS comprises a heterogeneous group of neurocutaneous syndromes unified by the presence of epidermal hamartomas and extracutaneous involvement, the relationship between genotype, cutaneous phenotype, and seizure phenotype remains incompletely understood. We systematically outline the epileptogenic potential of the 10 well-characterized ENS subtypes, highlighting the distinct seizure types, electroencephalographic findings, and associated structural brain anomalies such as hemimegalencephaly, cortical dysplasia, and neuronal heterotopias. Particular emphasis is placed on subtypes with a high seizure burden, including keratinocytic epidermal nevus syndrome, nevus sebaceus syndrome, phakomatosis pigmentokeratotica, nevus comedonicus syndrome, and angora hair nevus syndrome. For each, we examine the available evidence on seizure semiology, electroencephalographic correlates, radiologic features, and outcomes. Additionally, we review current management strategies, including both medical and surgical approaches to epilepsy in ENS, and discuss the emerging role of molecular targeted therapies. Through this review, we aim to underscore the importance of early diagnostic evaluation in patients presenting with epidermal nevi and to support multidisciplinary approaches for seizure control and long-term neurologic outcomes.

Spinal muscular atrophy (SMA) is a neuromuscular disease that significantly affects children's motor function, including the ability to breathe and swallow, and was the leading genetic cause of infant death until 2016. SMA affects not only children but entire families. SMA parents experience overall poorer mental health compared with parents of children without disabilities, impacting caregiving. However, their experiences and needs remain understudied. This study aimed to identify parent needs and recommendations for a parenting program. Semistructured interviews were conducted with 32 parents and analyzed using thematic analysis. Themes revolved around parent needs including respite care, greater access to the SMA community, own mental health, and education for health care professionals. Parents expressed interest in a parenting program that covered appropriate consequences, guidance on increasing child autonomy, SMA treatment information, and advice on preparing children for school. Qualitative findings highlighted unique parenting experiences and enthusiasm for a preventative parenting program that promotes parent well-being while providing parenting support.

Anxiety commonly co-occurs with childhood epilepsy, yet treatments targeting both are limited. Epidiolex (cannabidiol, CBD) is an FDA-approved treatment for seizures associated with rare pediatric epilepsies and may have anxiolytic effects. We evaluated its effects on seizures and anxiety in pediatric patients with refractory epilepsy, representing diverse seizure etiologies and circulating endocannabinoids and related biomarkers. Twelve participants (12.17 ± 5.17 years; 6 female) initiated Epidiolex for 4-6 weeks. Caregivers completed pre- and post-treatment seizure diaries; validated anxiety and quality-of-life assessments; and plasma endocannabinoids, related lipids, and CBD metabolites-including 7-hydroxycannabidiol (7-OH-CBD)-were measured. Post-treatment, 73% of caregivers reported improvements in anxiety and seizure frequency with minimal side effects and improved sleep. Plasma 2-arachidonoylglycerol increased from baseline to study end, with greater elevations in those with lower baseline concentrations. Plasma 7-OH-CBD increased from baseline to study end, confirming systemic CBD exposure. Epidiolex may provide anxiolytic benefits across pediatric epilepsy, potentially involving endocannabinoids.

Pediatric pseudotumor cerebri syndrome (PTCS) is an uncommon cause of raised intracranial pressure in children. We report a case of PTCS temporally associated with standard-dose oral N-acetylcysteine (NAC). A 6-year-old boy (20 kg) presented with 1 week of worsening nocturnal headaches, vomiting, and photophobia. Examination revealed bilateral optic disc swelling. Brain magnetic resonance imaging and magnetic resonance venography were normal. Lumbar puncture showed an opening pressure of 80 cm H2O and normal cerebrospinal fluid composition. The patient had been treated with oral NAC 200 mg twice daily for 4 weeks before symptom onset. Acetazolamide and topiramate were started with no improvement; symptoms and papilledema improved rapidly within 24 hours of NAC discontinuation. The patient remained asymptomatic at 6 months of follow-up. This case suggests a possible association between therapeutic-dose NAC and intracranial hypertension. Clinicians should consider medication-induced PTCS in children who present with new-onset headaches and papilledema. Further pharmacovigilance and reporting are warranted.

Persistent tic disorders (PTDs), including Tourette syndrome (TS), are neurodevelopmental disorders characterized by the presence of multiple motor and vocal tics for at least 1 year. Nearly 1.4 million Americans have PTDs, including TS. The prevalence is underreported because 50% of individuals who meet criteria for TS are suspected to be undiagnosed. The first clinical descriptions of TS were documented in the 1400s. It was not until 1885 that TS was formally characterized, and not until the 1960s that the understanding of TS shifted from psychological toward current neurobiologic theories. Although understanding of TS has expanded, there remain a lot of unknowns and stigma about the disorder. The goal of this study is to provide a brief historical perspective and review of the current knowledge of TS.

Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is an autoimmune disorder in which conventional MRI often appears normal, leading to clinical-radiologic dissociation and hindering early diagnosis and monitoring. We retrospectively studied five pediatric patients with anti-NMDAR encephalitis and compared their pretreatment diffusion MRI to age- and sex-matched controls. Using fixel-based analysis (FBA), we quantified tract-specific white matter abnormalities at the individual level. All patients showed significantly reduced fiber density and cross-section, with patterns ranging from focal to widespread involvement. In two patients, FBA abnormalities corresponded to seizure lateralization on EEG despite normal MRI, emphasizing FBA's added value in detecting seizure-concordant injury. One patient, exhibiting the highest disease burden and marked CSF pleocytosis, demonstrated extensive white matter tract disruption. These findings indicate that FBA derived from pretreatment MRI can identify clinically significant white matter injury at disease onset in pediatric anti-NMDAR encephalitis. Future large-scale studies should explore its potential as an individualized biomarker, which may offer diagnostic and prognostic value beyond conventional imaging.

BackgroundMumps is a highly neurotropic virus causing a wide variety of neurologic complications. Post-/para-infectious basal ganglia encephalitis is one of its rare complications, with higher morbidity compared with other complications.CasesWe present 5 cases with basal ganglia encephalitis secondary to mumps infection. A recent history of parotitis or febrile illness with serologic evidence of mumps, combined with acute onset of movement disorders, behavioral changes with or without seizures, and basal ganglia abnormalities on neuroimaging, suggests the diagnosis. The occurrence of extrapyramidal symptoms during recovery from a febrile illness, along with clinical improvement following immunomodulatory therapy, further supports the diagnosis.ConclusionPost-mumps basal ganglia encephalitis has higher morbidity than other mumps complications. Slower recovery and increased duration of hospitalization are noted. Including the mumps vaccine in routine immunization schedules is an effective way to prevent mumps and its associated basal ganglia encephalitis.

ObjectiveWe aimed to present a patient who developed a severe chorea after orthopedic surgery, plausibly related to multiple anesthetic agents.CaseAn otherwise healthy 11-year-old girl developed choreiform movements and distressing behaviors (screaming, visual hallucinations) 24-36 hours after ankle-fracture surgery. With urgent stabilization needed and haloperidol not yet at an effective dose, continuous midazolam infusion provided prompt control. Other potential causes of chorea were excluded: brain magnetic resonance imaging and cerebrospinal fluid were normal; routine biochemistry and complete blood count were unremarkable; autoimmune encephalitis antibodies, antinuclear antibody, and anti-dsDNA were negative; anti-streptolysin O was not elevated, echocardiography was normal; throat culture and viral serologies were negative. After exclusion of alternative etiologies, the presentation was attributed to propofol and tramadol exposure (movement disorder component) with a paradoxical reaction to midazolam (psychiatric symptoms).ConclusionSuch adverse effects can occur after anesthesia and may appear in a delayed fashion, independent of drug half-lives. Benzodiazepine infusion can serve as an effective bridge/primary therapy in antipsychotic-refractory postoperative hyperkinesias of childhood.