A child with benign neonatal jitteriness and spasmus nutans.

This patient, a 26-month-old girl, developed benign neonatal jitteriness soon after birth that subsequently resolved at 3 months of age. At 6 months of age, she developed spasmus nutans with left monocular nystagmus and head shaking in a "no-no" pattern. Physical examination was otherwise unremarkable. Magnetic resonance imaging (MRI) of the brain, optic nerves, and orbits was normal. The spasmus nutans also gradually resolved by 18 months of age. To our knowledge, the co-occurrence of these 2 benign movement disorders in an individual has not previously been reported. The pathogenesis of benign neonatal jitteriness and spasmus nutans is unknown. Their co-occurrence may reflect a shared underlying mechanism.

Oxcarbazepine use in paroxysmal kinesigenic dyskinesia: report on four patients.

The paroxysmal dyskinesias are a heterogeneous group of movement disorders. They are distinguished from one another by the mechanism through which abnormal movements are induced. Paroxysmal kinesigenic dyskinesia is the most common subtype, consisting of involuntary dyskinesias induced by purposeful movements. It typically responds favorably to anticonvulsants. This retrospective review describes four unrelated children and adolescents with idiopathic paroxysmal kinesigenic dyskinesia who were treated with oxcarbazepine. Each patient achieved complete resolution of signs with low-dose oxcarbazepine monotherapy.

Effects of sleep deprivation on the pediatric electroencephalogram.

BACKGROUND: The routine electroencephalogram aids in epilepsy syndrome diagnosis. Unfortunately, routine outpatient electroencephalogram results are normal in roughly half of children with epilepsy. To increase the yield, practice guidelines recommend electroencephalograms with sleep and sleep deprivation. The purpose of this study was to rigorously evaluate this recommendation in children. METHODS: We conducted a randomized, blinded comparison of routine electroencephalograms versus sleep-deprived electroencephalograms in 206 children aged 0 to 18 years. Electroencephalograms were ordered for standard indications after a neurologist's clinical assessment indicated > or =1 seizure (83%) or unclear spell (17%). The primary outcome was the proportion of normal routine electroencephalogram results versus sleep-deprived electroencephalogram results. Logistic regression modeling was used to assess the influence of sleep, as well as other clinical factors. RESULTS: Although children with sleep-deprived electroencephalograms had less sleep the night before (4.9 vs 7.9 hours) and more sleep during electroencephalograms (73% vs 55%), the increase in electroencephalogram yield was borderline significant (56% normal sleep-deprived electroencephalogram versus 68% normal routine electroencephalogram). Moreover, sleep during the electroencephalogram did not increase its diagnostic yield. Sleep-deprived electroencephalogram yield tended to be higher in children with preelectroencephalogram clinical diagnosis of seizure(s) and at older ages (>3 years). CONCLUSIONS: Sleep deprivation, but not sleep during the electroencephalogram, modestly increases the yield of the electroencephalogram in children diagnosed with seizures by neurologists. Compared with a routine electroencephalogram, the number needed to test with sleep-deprived electroencephalogram to identify 1 additional child with epileptiform discharges is approximately 11.

Hyperekplexia: a treatable neurogenetic disease.

Hyperekplexia is primarily an autosomal dominant disease characterized by exaggerated startle reflex and neonatal hypertonia. It can be associated with, if untreated, sudden infant death from apnea or aspiration pneumonia and serious injuries and loss of ambulation from frequent falls. Different mutations in the alpha1 subunit of inhibitory glycine receptor (GLRA1) gene have been identified in many affected families. The most common mutation is Arg271 reported in at least 12 independent families. These mutations uncouple the ligand binding and chloride channel function of inhibitory glycine receptor and result in increased excitability in pontomedullary reticular neurons and abnormal spinal reciprocal inhibition. Three mouse models from spontaneous mutations in GLRA1 and beta subunit of inhibitory glycine receptor (GLRB) genes and two transgenic mouse models are valuable for the study of the pathophysiology and the genotype-phenotype correlation of the disease. The disease caused by mutation in GLRB in mice supports the notion that human hyperekplexia with no detectable mutations in GLRA1 may harbor mutations in GLRB. Clonazepam, a gamma aminobutyric acid (GABA) receptor agonist, is highly effective and is the drug of choice. It enhances the GABA-gated chloride channel function and presumably compensates for the defective glycine-gated chloride channel in hyperekplexia. Recognition of the disease will lead to appropriate treatment and genetic counseling.