Pediatric neurology
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Pediatric neurology · Nov 2014
Case ReportsA novel nonsense mutation in SCN9A in a Moroccan child with congenital insensitivity to pain.
Congenital insensitivity to pain is a rare autosomal recessive disease. Individuals who are diagnosed with congenital insensitivity to pain usually present severely impaired pain perception, and in some cases, they also manifest a decreased sense of smell (anosmia). This disease is caused by loss of function mutations affecting the SCN9A gene, which encodes the voltage-gated sodium channel Nav1.7. It is noteworthy that nearly every mutation linking this particular channel to congenital insensitivity to pain has been demonstrated to underlie the translation of a truncated protein. ⋯ In this report we present a previously unreported homozygous nonsense mutation present in a consanguineous Moroccan congenital insensitivity to pain patient with anosmia. The identification of this mutation extends the spectrum of mutations affecting the Nav1.7 channel, and it confirms earlier studies that established Nav1.7 roles in nociception and the sense of smell.
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Erythropoietin is neuroprotective in animal models of neonatal hypoxic-ischemic encephalopathy. We previously reported a phase I safety and pharmacokinetic study of erythropoietin in neonates. This article presents the neurodevelopmental follow-up of infants who were enrolled in the phase I clinical trial. ⋯ This study is the first to describe neurodevelopmental outcomes in infants who received high doses of erythropoietin and hypothermia during the neonatal period. The findings suggest that future studies are warranted to assess the efficacy of this new potential neuroprotective therapy.
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Management decisions and parental counseling after pediatric cardiac arrest depend on the ability of physicians to make accurate and timely predictions regarding neurological recovery. We evaluated neurologists and intensivists performing neuroprognostication after cardiac arrest to determine prediction agreement, accuracy, and confidence. ⋯ Inter-rater agreement among neurologists and among intensivists improved over time and reached moderate levels. For all physicians, prediction accuracy and confidence improved over time. Further prospective research is needed to better characterize how physicians objectively and subjectively estimate neurological recovery after acute brain injury.
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Migraine equivalents are common clinical conditions without a headache component, occurring as repeated episodes with complete remission between episodes. They include abdominal migraine, cyclical vomiting, benign paroxysmal vertigo, and benign paroxysmal torticollis. Other clinical entities, such as motion sickness and limb pain have been associated with migraine. We aimed to investigate the prevalence of migraine equivalents in a large population of children referred to a pediatric headache center and to analyze the possible relationship between migraine equivalents and headache features. ⋯ Our results suggest that migraine equivalents should not be considered merely as headache precursors, but they as part of the migrainous syndrome. Thus, their inclusion among the diagnostic criteria for pediatric migraine/tension-type headache is useful.