Journal of Child Neurology最新文献

Trofinetide, a synthetic analog of glycine-proline-glutamate (GPE), is the first food and drug administration-approved treatment for Rett syndrome. Gastrointestinal side effects (primarily diarrhea) are common, but severe immune-mediated reactions have not been described. We report a case of a young girl with genetically confirmed Rett syndrome who developed emesis, pallor, and lethargy after 2 months of treatment with trofinetide. An attempt was made to restart the medication after being held for a week, but the patient again experienced adverse symptoms and the drug was held. After 3 months without the medication, she experienced recurrence of initial symptoms within hours of rechallenge, consistent with food protein-induced enterocolitis syndrome (FPIES). The medication was not continued after the re-challenge. The concept of drug-induced enterocolitis syndrome (DIES) has been reported with other agents; however, to our knowledge, this represents the first reported case of FPIES/DIES triggered by trofinetide. This case expands the spectrum of trofinetide-related adverse reactions and emphasizes the need to distinguish immune-mediated enterocolitis from dose-dependent osmotic diarrhea and highlights the importance of clinician vigilance when initiating similar therapies in children with complex neurodevelopmental disorders.

Fatigue is common in children with multiple sclerosis. This cross-sectional study aimed to determine the prevalence of fatigue, sleep disorders, and subjective sleep quality in children with multiple sclerosis, along with their relationships to mood, quality of life, physical activity, and multiple sclerosis disease characteristics. Validated questionnaires were completed, and objective sleep quality was evaluated with polysomnography. Of the 18 children recruited (median age 16.0 years), 72% reported fatigue and 61% experienced subjective sleep disturbance. Fourteen sleep studies were completed, from which 3 children (21%) were diagnosed with sleep disorders: 2 with periodic limb movement disorder and 1 with mild obstructive sleep apnea. Sleep architecture was fragmented in 13 children (93%). Fatigue correlated with subjective sleep disturbance measures. This study demonstrates an increased frequency of subjective and objective sleep disturbance in children with multiple sclerosis. Polysomnography should be considered in children with multiple sclerosis who report fatigue and subjective sleep disturbance.

Progressive neurodegeneration with the movement disorder can be challenging to diagnose. In this article, we present a 12-year-old female child with stroke and progressive neurocognitive decline that was followed by choreo-athetoid movements and worsening dystonia and epilepsy. There was diffuse cortical involvement with predominant frontal-parietal lobes involved, affecting speech and bladder bowel control. Despite no significant family history, the genetic evaluation helped us to diagnose the rare condition. We also discuss the various challenges faced while managing and diagnosing the patient and the role of surgical intervention for the management of difficult to control dystonias in such patients.

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.

Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) encompasses a spectrum of demyelinating disorders of the central nervous system, including a rare subtype known as FLAMES (FLAIR-hyperintense Lesions in Anti-MOG-associated Encephalitis with Seizures). FLAMES typically presents with unilateral cortical lesions, seizures, and elevated inflammatory markers in cerebrospinal fluid (CSF). Although the pathophysiology remains incompletely understood, recent reports have suggested potential immunologic triggers, including biologic agents. Herein, we present a case of a 17-year-old male adolescent with long-standing psoriasis, treated with the tumor necrosis factor α (TNF-α) inhibitor adalimumab, who developed FLAMES. The patient initially presented with focal seizures and severe headache, followed by neuropsychiatric symptoms and magnetic resonance imaging (MRI) findings consistent with cortical fluid-attenuated inversion recovery (FLAIR) hyperintensities. Diagnostic workup revealed positive anti-MOG antibodies, elevated CSF protein, and pleocytosis, whereas infectious etiologies were excluded. High-dose corticosteroids led to partial improvement, but behavioral disturbances and steroid-induced psychiatric effects necessitated a switch to intravenous immunoglobulin, which resulted in further clinical recovery. Due to the uncertain safety of other TNF-α inhibitors in similar contexts, alternative psoriasis treatment was considered. This case emphasizes the importance of recognizing FLAMES as a potential adverse event associated with TNF-α inhibitors and supports the need for individualized immunotherapy. Clinicians should be vigilant when patients receiving biologics present with new-onset seizures and cortical lesions. Further research is needed to elucidate the underlying mechanisms linking TNF-α inhibitor therapy and MOGAD.

Brivaracetam (BRV) is a novel third-generation antiseizure medication characterized by its high-affinity selective binding to synaptic vesicle protein 2A (SV2A). Its pharmacokinetic profile is marked by linear and dose-proportional metabolism, low protein binding, and a low risk of drug-drug interactions, eliminating the need for dosage adjustment in cases of renal impairment. Clinical studies have confirmed its efficacy and acceptable tolerability as an adjunctive therapy for children with epilepsy. Although existing data support BRV as a valuable therapeutic option, its optimal dosing strategies and specific indications in the pediatric population warrant further investigation. This review provides a comprehensive evaluation of BRV to guide evidence-based management of pediatric epilepsy.

This study seeks to develop fine motor development growth curves for children with Down syndrome, specifically related to grasping and visual motor integration skills. A cross-sectional retrospective chart review was completed on a large cohort of children with Down syndrome from birth to 6 years of age who completed the Peabody Developmental Motor Scales-2nd Edition (PDMS-2). Although both fine motor and visual motor development were delayed in children with Down syndrome compared with typically developing peers, and a negative association between fine motor quotient and age was observed, grasping and visual motor integration raw scores increased with age. The Down syndrome-specific percentile curves developed here may enable providers to identify individuals requiring further investigation, and will be useful in future studies of factors that may influence fine motor development in Down syndrome. These data will also help parents better understand their children's development and interpret developmental test results.

AimAmplitude-integrated electroencephalography (aEEG) is a method for continuous electrographic brain function monitoring. Despite evidence of aEEG relevancy in a range of clinical settings, its use has not yet been systematically tested in patients with chronic ventilation. We assessed the role of aEEG in the management of patients in a department of pediatric respiratory rehabilitation.MethodTwo hundred ninety aEEG readings from 116 patients over a period of 36 months were studied. aEEGs were performed on admission for all patients; 21 patients had repeated monitoring because of suspected seizures.ResultsMore than 92% of the patients had examinations that were feasible for interpretation. Seizures were noted in 29% of the aEEG readings at admission. A significant correlation was found between abnormal background activity and the presence of seizures. The aEEG obtained throughout hospitalization led to modification of treatment in 49% of patients including initiation of antiseizure medications in 20% of patients, avoidance of unnecessary treatment in 20% of patients, and transfer for advanced assessment in the primary hospital in 9% of patients.ConclusionThe results of this study reinforce the importance of using aEEG in chronically ventilated patients throughout rehabilitation. It is an important tool for accurate treatment and planning of the personal rehabilitation program.

ObjectiveDysautonomia in neuromuscular junction disorders is not frequently reported and is not widely recognized. It has been linked to thymoma and several novel antibodies. Yet, autonomic instability can be found even when these features are absent. In MuSK-related myasthenia gravis, clinical autonomic signs have been found in a significant percentage.CaseWe present a report of MuSK-related myasthenia gravis in a teen that presented with strong dysautonomic symptoms, most notably orthostatic intolerance prior to onset of neuromuscular symptoms. The patient experienced a severe disease course because of concurrent autonomic and myasthenic crises, requiring intensive treatment for recovery.DiscussionThe patient is unique in syncopal and autonomic burden prior to myasthenia gravis diagnosis. It is difficult to explain dysautonomia in MuSK. However, current evidence along with this case suggests yet unknown roles with broader systemic effect tied to the MuSK protein.