Journal of Child Neurology

Objective: This study aimed to assess the first-drug efficacy rate in newly diagnosed children with epilepsies treated with antiseizure medications. Methods: This retrospective study was conducted on 1003 children (age range: 3-10 years, and the mean duration of follow-up: 22 ± 13 months) with newly diagnosed epilepsy. The following parameters were evaluated: first-drug efficacy rate, first-drug-failure rate, and drug resistance rate in the cohort. Results: The first-drug-failure rate was defined in 335/1003 (33%) of the patients, no seizure control in 315 (31%), and drug withdrawal in 20 (2%). There was no significant difference between the group with focal-onset seizures and the group with generalized onset seizures. The first-drug efficacy rate was 67% in children with focal-onset seizures and 66% in children with generalized-onset seizures. Adjunctive antiseizure medication therapy was initiated in 335 patients—dual therapy with 180 patients (18%) and polytherapy with 155 (15%). Drug-resistant epilepsy was defined as 15% in the follow-up period. Etiology-specific diagnoses of the cohort were structural (n = 165, 17%), genetic (n = 25, 3%), metabolic (n = 15%), immune-infectious (n = 17 (2%), and unknown (n = 781, 77%). With a comparison of the 2 most common etiology subgroups (structural versus unknown), a first-drug efficacy rate of 53% and a higher prevalence of drug-resistant epilepsy at 30% were observed in children with structural etiology. First-drug efficacy was statistically lower in children without well-defined epilepsy syndromes (65%) compared with the rate of those with well-defined epilepsy syndrome (79%). Conclusion: This study revealed a first-drug failure rate (33%) in the presented cohort with a drug-resistance epilepsy rate (15%).

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.

Epstein-Barr virus meningoencephalitis is a rare central nervous system infection that lacks standardized treatment. Immunocompetent and immunosuppressed individuals with this condition frequently have poor prognostic outcomes, making the need to identify therapeutic interventions high. Here, we report 2 pediatric cases of severe Epstein-Barr virus meningoencephalitis, both unresponsive to immunoglobulin and corticosteroid therapy, who demonstrated rapid clinical recovery following rituximab administration. Prognostic outcomes revealed marked improvements in symptoms, neurologic function, and quality of life. Rituximab may offer therapeutic potential in severe and refractory Epstein-Barr virus meningoencephalitis through the medication's target of Epstein-Barr virus harboring B cells. This report emphasizes the need for timely evaluation and consideration of rituximab therapy in immunocompetent pediatric patients with Epstein-Barr virus meningoencephalitis.

Delirium often goes unrecognized in neonates and children because of lack of experience in evaluating behavior and cognition, insufficient awareness of the prevalence, and nondistinctive symptoms in this population. Although there are increasing reports of the presence of delirium in neonates, there are few data to guide the pharmacologic treatment in this population. In this retrospective single-center case series, we present our experience using quetiapine to treat delirium in 9 medically complex neonates. Based on an extensive literature review, expert opinion, and institutional experience, we propose an approach for monitoring and treating delirium in neonates and infants.