Pediatric neurology
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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.