Journal of Child Neurology最新文献

Management of the acute phase in steroid-unresponsive patients of myelin oligodendrocyte glycoprotein-associated disease (MOGAD) remains challenging, especially when there is no clinical improvement following a course of intravenous immunoglobulin (IVIG) which necessitates the need for reinfusion. The optimal timing of IVIG reinfusion in acute phase of MOGAD is a subject of debate. A 13-year-old South Indian boy presented with acute-onset paraparesis with urinary retention that progressed to quadriparesis within a week. Spine magnetic resonance imaging (MRI) spine revealed longitudinally extensive transverse myelitis from D2 to D7, whereas MRI brain showed subcortical white matter hyperintensities. Serum testing was strongly positive for myelin oligodendrocyte glycoprotein antibodies. Owing to persistent functional deficits following a course of IVIG, a reinfusion was administered at an interval of less than 2 weeks, shorter than the usual 3-4-week interval (corresponding to the half-life of IVIG) maintaining the presence and effectiveness of IVIG, leading to dramatic clinical improvement within a month.

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.

Brain monoamine vesicular transporter deficiency is a rare autosomal recessive neurometabolic disorder caused by mutations in the SLC18A2 gene, which encodes vesicular monoamine transporter 2 (VMAT2). VMAT2 is essential for packaging neurotransmitters such as dopamine, serotonin, norepinephrine, and histamine into synaptic vesicles. Its deficiency results in disrupted neurotransmission and a characteristic clinical syndrome involving developmental delay, hypotonia, movement disorders, and autonomic dysfunction. We report a novel homozygous frameshift variant, Chr10:119014792dupC (p.Phe238LeufsTer7), identified in a 5-month-old male from a consanguineous family, who presented with severe hypotonia, oculogyric crises, and developmental delay. This variant expands the known genotypic spectrum of SLC18A2-related disease. Our findings underscore the importance of early genetic testing in infants with unexplained movement disorders and support a multidisciplinary approach to care. We also compare this case to related neurometabolic disorders with overlapping clinical features and with prior SLC18A2 mutation-related disorder.

Headache disorders are one of the most frequent pediatric health complaints and are associated with impairments in daily functioning and increased rates of anxiety and depression. In adults with headache disorders, self-management education has successfully improved headache self-efficacy; however, no studies have evaluated this in a pediatric population. Hence, a pre-post comparison pilot study was conducted to evaluate the feasibility, acceptability, and effectiveness of a 1-time, 90-minute, in-person, group workshop on headache self-management. Participant-reported headache self-efficacy and chronic illness self-efficacy were assessed before the intervention to evaluate changes in self-efficacy 2 weeks after the intervention. Thirty participants completed the study [mean (SD) = 14.7 (1.5) years; 73% female]. Of those who responded to the acceptability survey (n = 13), all reported being very satisfied. Headache self-efficacy increased (P = .002), whereas chronic illness self-efficacy was unchanged (P = .445). The results from this pilot study will inform a larger-scale trial.

Dravet syndrome (DS), a severe developmental and epileptic encephalopathy often linked to SCN1A mutations, is defined by a profound thermosensitivity, making fever and hyperthermia potent seizure triggers. This review synthesizes evidence-based strategies and expert consensus for the management of fever and vaccination in children with DS. Management diverges from standard pediatrics, prioritizing aggressive pyrexia control through early antipyretics, physical cooling, and prophylactic benzodiazepines. Proactive strategies are also crucial for non-febrile hyperthermia from triggers like hot baths and overexertion. Although vaccinations can precipitate an initial seizure, they neither cause DS nor worsen its prognosis. Immunization remains strongly recommended, with prophylactic antipyretics advised as a key risk-mitigation measure. Importantly, current management strategies are based primarily on expert consensus rather than controlled clinical trials. Bridging expert consensus with clinical evidence is essential to reduce morbidity and improve long-term quality of life in DS.

ObjectiveTo elucidate factors associated with epilepsy in children with septo-optic dysplasia (SOD).MethodPatients (<21 years) diagnosed with SOD (2013-2023) were identified. Multivariate binomial regression predicted seizures in patients with SOD.ResultsWe identified 107 children (M:F = 46:61) with SOD. Among those, 103 had seizure data. Fifty-two (52/103; 50.5%) experienced seizures. Median age of seizure onset was 9 months (IQR: 4 months -2 years 5 months). Abnormal neurologic examinations were seen in 82.6% with seizures (P = .002). Global developmental delay was noted in 46 (43.0%) and associated with seizures (P = .004). Of 24 patients with autism spectrum disorder, 75% had seizures (P = .01). Ventriculomegaly and schizencephaly were associated with seizures (P = .015, P = .004). No significant associations were found between seizures and SOD diagnostic criteria combinations.InterpretationSeizures are highly prevalent in SOD patients. Diagnostic criteria for SOD do not predict seizures, underscoring the need for comprehensive screening in all SOD patients, irrespective of phenotype.

Risperidone and aripiprazole are US Food and Drug Administration (FDA)-approved to treat irritability and aggression in autism spectrum disorder. This is a time to reflect on whether the terminology of these medications is respectful to this patient population. Misleading terminology can give rise to uncertainty and delay in treatment. Based on past examples of evolving medication nomenclature, we advocate for a change in the language used to describe these medications to improve clarity surrounding treatment and support inclusive and positive care experiences.

This is a case report of a 7-year-old boy with a medical history of a motor vehicle accident (MVA) 2 years previously. Two years post-MVA, he developed quivering and twitching of the right side of his lip, palate, and neck. Multiple antiseizure medications were attempted with no effect. However, carbamazepine was started with marked improvement. The most recent brain magnetic resonance imaging showed findings suggestive of hypertrophic olivary degeneration (HOD). Electroencephalography captured the abnormal facial twitching with audible palatal clicking, but was not associated with electrographic changes. This case demonstrates the anatomic importance of the Guillain-Mollaret triangle, as traumatic disruption of this pathway resulted in palatal myoclonus. HOD occurring due to trauma is an incredibly rare etiology, with only 1 other case reported in the literature in a 27-year-old man, with no previous reports of posttraumatic HOD occurring in an individual under 18 discovered during our literature review.