Journal of Child Neurology最新文献

Carotid artery dissection is a rare but significant cause of pediatric stroke, often associated with trauma or underlying collagen vascular disorders. The management of these cases, both medical and surgical, is complex, particularly in bilateral dissections where collateral circulation may be insufficient. We describe a case of bilateral internal carotid artery occlusion that developed 10 days after an initial traumatic fall. The progression of ischemic stroke burden and fluctuating neurologic status, despite therapeutic anticoagulation and optimal medical management, led to the decision for endovascular intervention involving balloon angioplasty and stenting. Following the procedure, a rapid improvement in neurologic function was observed, with the patient exhibiting only mild deficits at discharge. This case highlights the complexities in managing pediatric carotid dissections, especially in unusual presentations. Our experience underscores the necessity for tailored treatment strategies, rigorous monitoring, and a multidisciplinary approach to optimize outcomes in pediatric stroke patients.

IntroductionSaposin B deficiency is an ultrarare lysosomal disorder caused by biallelic mutations in the PSAP gene. Although it clinically resembles classical arylsulfatase A (ARSA)-deficient metachromatic leukodystrophy (MLD), ARSA activity remains biochemically normal. Fewer than 30 genetically confirmed patients have been reported to date.Patient PresentationWe describe 2 pediatric patients with homozygous PSAP gene mutations. Both presented with progressive neurodegeneration, spastic quadriparesis, demyelinating peripheral neuropathy, and radiologic findings consistent with MLD. The first patient harbored a canonical splice-site variant (c.577-1G>T), whereas the second carried a recurrent missense mutation (p.Cys241Ser). Notably, the first patient also had a PMP22 duplication consistent with coexisting CMT1A. Despite preserved ARSA activity, both patients fulfilled clinical and imaging criteria for MLD. Abdominal imaging revealed gallbladder sludge in both patients, with additional biliary tract dilation in one. These hepatobiliary findings have not been previously reported in genetically confirmed saposin B deficiency, broadening the known phenotypic spectrum.ConclusionThese patients underscore the importance of PSAP gene sequencing in MLD-like presentations with normal ARSA activity and suggest that hepatobiliary involvement may be an underrecognized feature of saposin B-related MLD.

ObjectiveThe aim of this study was to investigate the relationship between sleep parameters and motor performance, cognitive status, and pulmonary function in children with Duchenne muscular dystrophy (DMD).MethodChildren with DMD aged 5-12 years who were able to walk independently were included in the study. Sleep problems were assessed using a parent-proxy tool, the Children's Sleep Habits Questionnaire (CSHQ). The Pediatric Sleep Questionnaire-sleep-related breathing disorders (PSQ-SRBD) was used to assess sleep-disordered breathing. Motor performance was evaluated using the 6-minute walk test and muscle strength assessments. Cognitive status was assessed by performing dual tasks, including both motor-motor and cognitive-motor tasks. Spirometry was used to measure pulmonary function.ResultsA total of 39 children with DMD (mean age: 9.03 ± 1.88 years) were included. The mean CSHQ total score was 44.79 ± 6.32 points, and 64.1% (n = 25) of the children had sleep problems. The PSQ-SRBD scores did not indicate a significantly increased risk of SRBD (median: 0.15 (IQR: 0.09-0.27)); only 15.4% (n = 6) of the children were found to be at increased risk. No significant associations were found between sleep problems and motor, cognitive, or pulmonary parameters (p > .05).ConclusionBehavioral sleep problems were found to be highly prevalent in children in the early stages of DMD; however, there was no correlation between sleep problems and clinical parameters. Children with DMD should be screened for sleep problems at an early stage, before any deterioration in clinical parameters or symptoms of sleep disturbances is expected.

This multicenter retrospective study examined the clinical characteristics and outcomes of 26 patients with sodium channel protein type 8 subunit alpha (SCN8A)-related epilepsy and/or neurodevelopmental disorders across the Gulf region. Data were collected from August 2024 to January 2025. Most patients (80.77%) experienced epilepsy onset within the first year of life, with a mean onset age of 8.25 months. Common features included developmental delay (69.57%), epileptic encephalopathy (73.08%), intellectual disability (46.15%), and movement disorders (34.62%). Genetic testing identified SCN8A mutations, primarily loss-of-function variants (65.38%), with missense mutations being most frequent. Seizure types varied, with generalized tonic-clonic (53.84%) and focal seizures (42.31%) being common. Levetiracetam and sodium channel blockers were the most used treatments. A seizure reduction of >50% was achieved in 65.38% of patients, and 26.92% became seizure-free. Loss-of-function mutations were linked to better outcomes. The study underscores the clinical variability of SCN8A disorders and the importance of personalized genetic diagnosis and targeted therapy.

To study the cognitive outcome of Chinese very-low-birth-weight (VLBW) infants and its relationship to brain magnetic resonance imaging (MRI), we conducted a prospective cohort design including 104 VLBW and 110 full-term (FT) infants born in 2020. The mean Mental Developmental Index (MDI) and Psychomotor Developmental Index (PDI) scores of VLBW infants were significantly lower than those of FT infants (all P < .001). The MDI and PDI scores of VLBW infants with MRI abnormalities were significantly lower than those of infants with normal MRI and FT infants (all P < .01). The brain MRI findings were correlated with the incidence of neurodevelopmental impairments (NDI) (OR = 5.05, 95% CI = 1.378-18.478; P = .015). In conclusion, VLBW infants are at high risk for neonatal brain MRI abnormalities and NDI at 24 months, and neonatal MRI abnormality is a strong predictor for later NDI.

Acute ataxia is a pediatric condition associated with a plethora of etiologies. This systematic review with meta-analysis was undertaken to provide a hierarchal approach to the differential diagnosis of acute ataxia in the pediatric population. Eleven studies, consisting of 1167 children, met inclusion criteria of 10 or more patients, multiple etiologies of ataxia, and diagnostic data including number of patients with each condition. Extracted data were summarized and expected values (EVs) and 95% credible intervals for each disease entity were estimated using a Bayesian methodology. Postinfectious cerebellitis (EV, 38.0%; 95% CredI, 35.3-40.8%), drug intoxication/poisoning (EV, 14.1%; 95% CredI, 12.1-16.1%), central nervous system infection or inflammation (EV, 8.1%; 95% CredI, 6.6-9.8%), neoplasm (EV 7.3%; 95% CredI, 5.9-8.8%), and peripheral neuropathies including Guillain-Barré syndrome (EV, 6.6%; 95% CredI, 5.3-8.1) occurred most commonly and accounted for 74.1% of cases.

Visuoperceptual skills are crucial for childhood development yet remain poorly understood in children with perinatal arterial ischemic stroke (PAIS). This study examined visuoperceptual performance and structural connectivity of visual pathways in children with perinatal arterial ischemic stroke and typically developing controls. Participants completed the Motor-Free Visual Perceptual Test (MVPT), Apples Test, Jerry John's Basic Reading Inventory (BRI), and diffusion-weighted magnetic resonance imaging (MRI) with tractography of optic pathways. Visuoperceptual and reading scores were compared by group and lesion laterality. Twenty-six perinatal arterial ischemic stroke and 27 typically developing controls were recruited. Perinatal arterial ischemic stroke children scored significantly lower on the Motor-Free Visual Perceptual Test and Jerry John's Basic Reading Inventory and took longer on the Apples Test. Right hemisphere lesions were associated with greater deficits in visuoperceptual and reading than left-sided lesions. No correlations were found between white matter microstructure and visuoperceptual scores. Findings highlight the need for early visuoperceptual screening in perinatal arterial ischemic stroke, regardless of motor status, and further investigation by lesion laterality.

BackgroundBotulinum toxin is widely used for the treatment of spasticity in pediatric patients with cerebral palsy. Although regarded as safe, rare but severe systemic complications, such as iatrogenic botulism, may arise.Case PresentationWe present the case of an 8-year-old boy with cerebral palsy who experienced global muscle weakness, bilateral ptosis, dysphagia, and respiratory distress after botulinum toxin A (Dysport). The clinical presentation was consistent with iatrogenic botulism. The patient was administered botulinum antitoxin, resulting in a gradual enhancement of the condition. Sequential clinical photos depict the progression of the sickness and subsequent recovery, which led to progressive improvement.ConclusionIatrogenic botulism must be contemplated in individuals exhibiting new-onset bulbar or respiratory symptoms after botulinum toxin injection. Timely identification and prompt commencement of antitoxin treatment are essential for positive outcomes.

Recent medical advances are allowing more youth with neuromuscular disorders to live into adulthood, thus increasing the necessity to transition youth from pediatric to adult medical care. Examining salient factors and processes for successful transition planning from pediatric to adult medical care in youth with neuromuscular disorders is a nascent field of study. The current study aims to address the key quality improvement question of identifying factors to consider when planning for transition by exploring the views of youth with neuromuscular disorders, caregivers, and providers within a multidisciplinary clinic regarding current care transition practices via quantitative and qualitative approaches. Both qualitative and quantitative results highlighted patient-endorsed importance of transition and emphasized the need for future tailored supports to facilitate gleaning skills for transition. Overall, this study offers valuable insights from patients, parents, and providers about challenges and best practices involved in transition planning for young adults with neuromuscular disorders.