Journal of child neurology
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During the past two decades the focus on sport concussion has increased significantly. Young athletes represent the most vulnerable population to sustain a sport concussion yet receive the least amount of attention. ⋯ The purpose of this review is to provide a clinical framework for the evaluation and management of sport concussion. In addition, this review provides considerations for health care professionals in regard to clinical measures and follow-up strategies during the acute phase following concussion in young concussed athletes following injury.
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The purpose of this survey and record review was to characterize emergency department management of unprovoked seizures and status epilepticus in children in Illinois. The survey was sent to 119 participating emergency departments in the Emergency Medical Services for Children program; responses were received from 103 (88% response rate). Only 44% of the emergency departments had a documented protocol for seizure management. ⋯ Ninety percent of patients were treated with anticonvulsants. Seizure education was provided by the primary emergency department nurse (97%) and the treating physician (79%). This project demonstrated strengths and weaknesses in the current management of pediatric seizure patients in Illinois emergency departments.
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Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder. It has been reported that the defect in the NTRK1 gene encoding tropomyosin-related kinase A (TrkA) can cause congenital insensitivity to pain with anhidrosis. Nerve growth factor (NGF), the product of NGFB, mediates biological effects by binding to and activating tropomyosin-related kinase A. ⋯ We performed mutation analysis in NTRK1, NGFB, and NDN genes in a Chinese Han 17-year-old female patient with congenital insensitivity to pain with anhidrosis and her healthy family members. As a result, the patient was found to have a novel insertion in exon 7 (c.727insT) of NTRK1, which causes premature termination, and a single nucleotide polymorphism (rs2192206 G>A) in NDN. Our findings imply that the genetic variations of the nerve growth factor-tropomyosin-related kinase A pathway play an important role in congenital insensitivity to pain with anhidrosis.
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To determine the yield of neuroimaging in children presenting to the emergency department with acute ataxia in the post-varicella vaccine era, we conducted a cross-sectional study between 1995 and 2013 at a single pediatric tertiary care center. We included children aged 1-18 years evaluated for acute ataxia of <7 days' duration. The main outcome was clinically urgent intracranial pathology defined as a radiologic finding that changed initial management. ⋯ Age ≤3 years and symptoms ≤3 days of duration were predictors of low risk (0.7%, 95% confidence interval 0%-4.4%). In conclusion, neuroimaging may be indicated for most patients presenting with acute ataxia. Neuroimaging may be deferred in younger children with short duration of symptoms contingent on close follow-up.
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Aicardi-Goutières syndrome is an inherited leukodystrophy with calcifying microangiopathy and abnormal central nervous system myelination. As fewer diagnostic computed tomographic (CT) scans are being performed due to increased availability of magnetic resonance imaging (MRI), there is a potential for missed diagnoses on the basis of calcifications. ⋯ Features for pattern recognition of Aicardi-Goutières syndrome are temporal lobe swelling followed by atrophy with temporal horn dilatation, early global cerebral atrophy and visible calcifications, as evidenced by 94.44% of cases of Aicardi-Goutières syndrome correctly classified with a sensitivity of 90.9% and specificity of 96.9%. We identify a panel of MRI features predictive of Aicardi-Goutières syndrome in young patients that would differentiate it from other leukoencephalopathies.