Journal of Child Neurology最新文献

Mitochondrial complex I transfers electrons from NADH (nicotinamide adenine dinucleotide) to ubiquinone, facilitating ATP synthesis via a proton gradient. Complex I defects are common among the mitochondrial diseases, especially in childhood. NDUFA12, located in complex I's transmembrane domain, is not directly involved in catalytic activity, but the NDUFA mutations are associated with Leigh syndrome and complex I defects. Complex I deficiency typically manifests as bilateral brainstem lesions and presents with dystonia, hypotonia, and optic nerve damage. This article discusses a patient with an NDUFA12 mutation resembling neuromyelitis optica spectrum disorder clinically and radiologically, highlighting the importance of considering NDUFA12 mutations in dystonia and optic neuritis diagnoses, particularly in neuromyelitis optica spectrum disorder cases that do not respond to standard treatments. Further research on NDUFA12 variants is needed for a better understanding of their phenotypic spectrum and to enhance diagnostic accuracy.

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.