Pediatric neurology
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Pediatric neurology · May 2012
ReviewEmerging treatments in the management of tuberous sclerosis complex.
Tuberous sclerosis complex is a genetic disorder characterized by the formation of nonmalignant hamartomas in the brain, heart, skin, kidney, lung, and other organs. It is associated with autism, epilepsy, and other neurocognitive and behavioral disabilities. Wide phenotypic variation occurs in disease severity and natural course: some patients demonstrate minimal effects, e.g., skin changes; others manifest profound seizures and mental retardation. ⋯ Until recently, few options existed, other than surgery, for treating symptoms of tuberous sclerosis complex related to the growth of hamartomas. Increased understanding of the genetic cause of the disease and underlying dysregulation of the mammalian target of rapamycin pathway has led to clinical trials of mammalian target of rapamycin inhibitors, including sirolimus and everolimus. This review gives an overview of tuberous sclerosis complex and its molecular causes, and summarizes results from recent clinical trials of mammalian target of rapamycin inhibitors in patients with the disease.
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Pediatric neurology · Apr 2012
Case ReportsNonparaneoplastic anti-N-methyl-D-aspartate receptor encephalitis: a case series of four children.
A rare, severe form of immune-mediated encephalitis recently has been described, associated with antibodies against N-methyl-D-aspartate receptors. It is reported mostly in women with ovarian tumors. ⋯ We describe four children with a neuropsychiatric and extrapyramidal syndrome associated with the presence of anti-N-methyl-D-aspartate receptor antibodies in cerebrospinal fluid and serum, without evidence of neoplasia. Three children recovered completely after immunomodulatory therapy, i.e., intravenous immunoglobulin and/or steroids, methylprednisolone, and/or adrenocorticotrophic hormone.
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Congenital myasthenic syndromes comprise heterogeneous genetic diseases characterized by compromised neuromuscular transmission. Congenital myasthenic syndromes are classified as presynaptic, synaptic, or postsynaptic, depending on the primary defect's location within the neuromuscular junction. Presynaptic forms are the rarest, affecting an estimated 7-8% of patients; synaptic forms account for approximately 14-15% of patients; and the remaining 75-80% are attributable to postsynaptic defects. ⋯ The identification of congenital myasthenic syndromes subtypes will prove important in the treatment of these patients. Different drugs may be beneficial, or should be avoided because they are ineffective or worsen some forms of congenital myasthenic syndromes. We explore the classification, clinical manifestations, electrophysiologic features, genetics, and treatment responses of each congenital myasthenic syndrome subtype.
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Pediatric neurology · Mar 2012
Electroencephalogram monitoring in critically ill children: indications and strategies.
Continuous electroencephalographic monitoring often detects nonconvulsive seizures in critically ill children, but it is resource-intense and has not been demonstrated to improve outcomes. As institutions develop clinical pathways for monitoring, they should consider how seemingly minor variations may exert substantial impacts on resource utilization and cost. In our 1-month prospective observational study, each patient in a 45-bed pediatric intensive care unit was screened for potential monitoring indications. ⋯ The prolonged-targeted and brief-targeted strategies would have required 106 and 33 monitoring days, respectively. Based on nonconvulsive seizure occurrence data, these strategies would detect 0.14, and 0.43 patients with seizures per monitoring day performed, respectively. A brief-targeted strategy provides a high yield for nonconvulsive seizure identification, but would fail to diagnose some patients with seizures.
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Pediatric neurology · Mar 2012
Case ReportsSimultaneous papilledema and optic disc drusen in a child.
Idiopathic intracranial hypertension is a headache syndrome characterized by elevated intracranial pressure with normal cerebrospinal fluid content, normal cranial imaging, and elevated appearance of the optic disc. We report on a 6.5-year-old boy with complaints of headache and right esotropia causing diplopia. A lumbar puncture indicated an opening cerebrospinal fluid pressure of 28 cm H(2)O. ⋯ A second ophthalmologic consultation revealed optic disc drusen, as also demonstrated by ocular ultrasonography. To date, two such cases have been reported in the literature. To our knowledge, this patient is the youngest with coexisting optic disc drusen and idiopathic intracranial hypertension.