Journal of Child Neurology最新文献

Neurosarcoidosis is a rare chronic inflammatory disease affecting the nervous system. Owing to its varying manifestations that can mimic other central nervous system infectious or autoimmune diseases, and scarcity of literature, it proves to be a challenging diagnosis. We report two cases of possible neurosarcoidosis in the pediatric age group. Our first patient presented to us with seizures at the age of 13 years, whereas our second patient presented with headaches and vomiting at the age of 10 years. Both patients had elevated cerebrospinal fluid protein levels and leptomeningeal enhancement on magnetic resonance imaging (MRI); however, one patient also had a pituitary lesion. Tests for tuberculosis were negative for both. One of the 2 patients exhibited normal angiotensin-converting enzyme levels at the start of symptoms but later showed raised angiotensin-converting enzyme levels. His diagnosis was delayed as he was treated initially for central nervous system infections. His disease course showed frequent relapses with varying clinical symptoms. After trying steroids and different immunosuppressive agents, he was given a rituximab infusion, and he went into remission. Our cases contribute to the literature for addressing diagnostic and management challenges in children with neurosarcoidosis.

Background: Cardiac catheterization in children with heart disease is associated with an increased risk of arterial ischemic stroke. We created and evaluated the diagnostic performance of a bedside screening tool administered postprocedure to identify arterial ischemic stroke.

Methods: We developed a postprocedure stroke screen comprising history of stroke, responsiveness, command following, speech, facial and limb strength symmetry, new seizure, and caregiver concern. We compared the performance of the screening tool in a retrospective cohort of 21 patients with a postcatheterization arterial ischemic stroke and a prospective cohort of 100 consecutive control patients after cardiac catheterization.

Results: The postprocedure stroke screen delivered a maximum Youden index ranging from 0.810 to 0.937 at threshold scores of 2 or 2.5 and gave a sensitivity and specificity >0.9. The area under the receiver operating characteristic curve ranged from 0.931 to 0.946.

Conclusions: We developed a screening tool with high sensitivity and specificity to identify postcatheterization arterial ischemic stroke in children.

Objective: We aimed to evaluate the relationship between attack frequency and severity and serum levels of micronutrient in pediatric migraine patients.

Methods: Children at 2 hospitals from February to December 2022 diagnosed with migraine were reviewed.

Results: A total of 171 patients with a mean age of 14.3 ± 2.9 years were included in the study. The median 25(OH) vitamin D level was 15.6 μg/L in patients with an attack frequency of 1-3 per month versus 11.9 μg/L in those with more than 3 attacks per month (P = .005). The median vitamin B₁₂ level was 386 ng/L in patients with attack duration of 2-6 hours versus 343.5 ng/L in those with an attack duration of 12-24 hours (P = .048). The median ferritin level was 34 μg/L among patients not receiving prophylactic treatment and 24 μg/L among those receiving prophylactic treatment (P = .019).

Conclusions: This study suggests that assessing micronutrient levels may be beneficial in children with migraine.

Developmental Coordination Disorder (DCD) is a neurodevelopmental condition presenting with poor motor skill development and impaired coordination at a young age. To diagnose DCD, neurologic conditions explanatory for the phenotype, including structural brain abnormalities like hydrocephalus, must be first ruled out. However, these neurologic conditions may phenotypically mimic DCD, which can hamper their distinction. In this article, we report a patient in whom the initial diagnosis of DCD was withdrawn after the identification of acquired hydrocephalus. An important cue in this case was secondary macrocephaly (from +0.00 to +2.25 standard deviations over approximately 6 years' time). This case illustrates that, in children whose phenotypes seemingly fulfill the DCD criteria, it is important to rule out an underlying, treatable etiology before making the diagnosis of DCD. Since few structural brain abnormalities mimicking DCD may present with macrocephaly, including hydrocephalus, performing longitudinal head circumference measurements can be useful to timely identify these neurologic conditions.

This review evaluated the correlation between inflammatory response and clinical outcomes in pediatric patients with meningitis. PubMed, Scopus, and Web of Science were searched for relevant studies published until March 2024. A total of 139 articles were identified; 7 studies were eligible, and 3 provided data for the meta-analysis. All included articles comprised one of the following cohorts: children with bacterial meningitis, those with aseptic meningitis, or febrile children without evidence of central nervous system infection. The following cytokines and chemocytokines were assessed: interleukin IL-1β, IL-6, IL-17, tumor necrosis factor-alpha, and transforming growth factor-beta 1. Studies on children with bacterial meningitis confirmed by culture found that acute complications and neurologic sequelae were associated with higher concentrations of IL-1β, IL-6, and IL-17. Although this review could not definitively correlate individual inflammatory responses with the prognosis of children with central nervous system infections, IL-6 from cerebrospinal fluid may potentially predict the prognosis of children with bacterial meningitis.

Background: Persistent cortical deafness in the pediatric population is rarely reported, and there is limited information on its implications for early intervention.

Objectives: This study aims to (1) conduct a scoping review on pediatric cortical deafness and (2) present a case report of a 7-year-old girl with left unilateral spastic cerebral palsy and cortical deafness resulting from presumed perinatal bilateral stroke.

Methods: A search of PubMed, Scopus, and Web of Science identified 407 manuscripts. After the screening, 5 studies met the inclusion criteria for analysis. The case report details clinical characteristics, diagnostic challenges, and intervention strategies for pediatric cortical deafness.

Results: The scoping review highlighted the limited literature on pediatric cortical deafness, emphasizing its association with extensive bilateral lesions and heterogeneous etiology. The case report underscored the need for comprehensive auditory function measurements, early diagnosis, and tailored interventions.

Conclusions: Early and tailored interventions are crucial for improving prognosis in pediatric cortical deafness, particularly in cases associated with bilateral perinatal stroke.

The Hammersmith Neonatal (HNNE) and Infant (HINE) Neurological Examinations are increasingly used to evaluate developing neuromotor control in infants at risk for physical disability, but there is no global consensus on score interpretation across the first 6 months after birth. We report scores for typically developing, full-term infants aged 1 month for the HNNE and aged 2-6 months for the HINE. The median HNNE and HINE scores are consistent with previously published data. These normative data can be used to aid in the interpretation of HNNE and HINE scores from infants at risk for neuromotor impairment.

Neurofibromatosis type 1 (NF1) is a multisystemic neurocutaneous disease caused by a heterozygous mutation of the NF1 gene that encodes neurofibromin. Complications include vascular and neurologic abnormalities such as moyamoya syndrome, a cerebrovascular disorder with progressive occlusion of the large intracranial arteries, leading to ischemic events and the formation of abnormal vascular networks. Stenosis of the renal artery is another frequent complication of neurofibromatosis type 1, and it represents the most common cause of secondary hypertension in these patients. The purpose of the article is to describe the clinical manifestations of neurofibromatosis type 1 vasculopathy in 4 patients presenting with a wide range of neurologic and reno-vascular manifestations, as well as to examine current diagnostic management and follow-up, current therapeutic options, and to discuss further perspectives in terms of screening, diagnosis, and treatment.

β-Propeller protein-associated neurodegeneration (BPAN) is a rare, X-linked condition caused by pathogenic variants in the WDR45 gene that result in a defect of autophagy. Classified as a disorder of neurodegeneration with brain iron accumulation, β-propeller protein-associated neurodegeneration is associated with severe neurologic impairments. With the anticipation of future therapeutic trials, this project characterizes the family's perspective of the impact of disease and defines Health Concepts (HC).Children with a molecularly confirmed diagnosis of β-propeller protein-associated neurodegeneration were enrolled in a prospective natural history study. We administered the Vineland Adaptive Behavior Scales-Third Edition and provided health-related quality of life questionnaires to 42 caregivers. Questionnaires included Pediatric Quality of Life Inventory-Generic Core and Pediatric Quality of Life Inventory-Family Impact modules, Caregiver Priorities and Child Health Index of Life with Disabilities, and Caregiver TBI-CareQoL.The Vineland Adaptive Behavior Scales-Third Edition (n = 42) captured the family's perspective that communication was more affected compared with socialization, activities of daily living (ADL), and motor skills (P < .0001, P < .0001, P = .0053, respectively). Similarly, on the Caregiver Priorities and Child Health Index of Life with Disabilities (n = 26), Pediatric Quality of Life Inventory-Generic Core (n = 27), CareQol (n = 26), and Pediatric Quality of Life Inventory-Family Impact (n = 27), communication abilities, as well as social functioning and activities of daily living, were noted to be most impacted.Through the use of standardized surveys and outcome assessments, we establish the effects of β-propeller protein-associated neurodegeneration on caregiver quality of life. Key health concepts identified by families included overall health, comfort, and communication. The identified HC will inform the future identification of concept of interest and selection of appropriate clinical outcome assessments through the administration of patient-reported outcomes.