Journal of child neurology
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Mutations in the LIS1 gene result in isolated lissencephaly or subcortical band heterotopia. We report a 5-year-old male who presented with seizures and global developmental delay. Magnetic resonance imaging (MRI) demonstrated posteriorly predominant pachygyria and subcortical band heterotopia. ⋯ H389Y mutation in exon 11 (c.1165C>T). The child's mother was found to have the identical mutation as her son, with the signal intensity of the mutant allele being much lower than the normal allele, suggesting somatic mosaicism. This patient is one of only a few reported with a missense mutation in LIS1 associated with subcortical band heterotopia, and this is the first report of a mosaic individual having an affected child.
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The recommendation to measure cerebrospinal fluid opening pressure in the extended, rather than the flexed lateral recumbent position to avoid false elevation of the opening pressure has not been formally evaluated in children. This single-center prospective cohort study includes 53 children who had their opening pressure measured in both the flexed and extended lateral recumbent positions prior to removing any cerebrospinal fluid (mean age = 11.7 years; 60% male). ⋯ Most (92.4%) opening pressure measurements had less than a 5 cm H2O difference between positions. Lumbar puncture performed in the extended, rather than the flexed lateral recumbent position results in a statistically significant decrease in cerebrospinal fluid opening pressure, although the magnitude of the difference is small and of doubtful clinical significance.
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In 2006, intravenous levetiracetam received US Food and Drug Administration (FDA) approval for adjunctive treatment of partial onset seizures in adults with epilepsy, 16 years or older. We have established the safety, tolerability, and dosage of intravenous levetiracetam in children. This prospective study included 30 children (6 months to <15 years of age). ⋯ Minor reactions included sleepiness, fatigue, and restlessness. An apparent decrease in seizure frequency across all seizure types was noted. The dose of 50 mg/kg was well tolerated by the patients and is a safe, appropriate loading dose.
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In the past decade, most studies on levetiracetam were conducted on patients aged > or = 4 years of age. The authors sought to assess the efficacy and safety of levetiracetam as an adjunctive treatment of children <4 years of age with refractory epilepsy. The mean levetiracetam dosage used on the 24 patients in this study was 38.85 mg/kg per day, and the mean duration of treatment was 40 weeks. ⋯ Eight patients showed no obvious response and the remaining 2 patients showed divergent responses. Although adverse effects were seen in 37.5% of patients, all adverse effects were tolerable or resolved with time or discontinuation. Therefore, the authors conclude that levetiracetam treatment is effective and safe in young children with refractory epilepsy.
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Child neurologists must remain vigilant to the possibility of nonaccidental injury. Just as clinicians have become accustomed to considering potential abuse or neglect in children presenting with a head injury or skeletal trauma, physical abuse must also be considered when children present with lesions at other sites of the neuraxis, as illustrated by this child's brachial plexopathy. Key elements from the history can assist clinicians in differentiating accidental events from nonaccidental injuries secondary to abuse or neglect. ⋯ Her parents initially denied the occurrence of any significant trauma. Furthermore, her diagnosis was complicated by the identification of concomitant, but unrelated lead toxicity. In this case, the vague and inconsistent parental history, plexopathy recurrence, and identification of a fracture all heightened suspicion of child abuse.