Making the diagnosis of non‐accidental head injury, particularly in the acute illness, can be difficult. The aim of this retrospective study was to evaluate the use of magnetic resonance imaging in the acute presentation of non‐accidental head injury. Twelve cases admitted to the Royal Hospital for Sick Children, Edinburgh with a diagnosis of non‐accidental head injury, and who had magnetic resonance imaging in the acute illness, were identified. The average age was 5.7 mo (range 1 to 34 mo). The mechanism of the primary injury was whiplash‐shaking injury syndrome with impact in four cases and without evidence of impact in seven; in one case there was a compression injury. The magnetic resonance imaging findings reflected the pathological consequences of rotational acceleration‐deceleration injury and did not differ between those cases with evidence of impact and those without. Subdural haematomas were identified in all cases; the commonest location for subdural blood was the subtemporal region. It is surprising and important that the most frequent location of subdural blood was in the subtemporal area. This is an area difficult to assess by computerized tomography. Evidence of repeated injuries was found in two cases. These findings confirm the value of magnetic resonance imaging in the acute phase of non‐accidental head injury. □Child abuse, magnetic resonance imaging, non‐accidental head injury, whiplash shaking injury
Background: Epileptic encephalopathy (EE) is a severe condition in which epileptic activity itself may contribute to severe cognitive and behavioural impairments above and beyond what might be expected from the underlying pathology alone. Next generation sequencing technologies such as whole exome sequencing (WES) can detect underlying genetic causes of in EE. Methods: This report describes genotype-phenotype correlation of 29 subjects with unexplained epileptic encephalopathy, in whom WES, targeting a list of 557 epilepsy-associated genes was performed. Epilepsy phenotyping was done according to current ILAE recommendations. Results: Median age at seizure onset was 14 months (range 1-48). Electroclinical syndromes were applicable for 16/29, 8/16 had a defi nite/likely diagnosis. 6/8 subjects with West syndrome had variants in ALG13, STXBP1, PAFAH1B1, SLC35A2, CDKL5 and ADSL. 2 patients with Dravet syndrome had variants in SCN1A and PCDH19 respectively. 4/29 had unspecifi ed EE and defi nite/likely diagnosis due to STXBP1, POLG, and KCNQ2 (2) variants. 4/29 had a possible diagnosis involving GABRB3, ARHGEF9, PCDH19 and SCN3A variants. Conclusions: The high diagnostic yield (defi nite/likely diagnosis in 11/29 = 38%), involving a broad variety of epilepsy-associated genes in different electroclinical syndromes justifi es the diagnostic approach of early onset EE by next generation sequencing.
Introduction: Our goal was to perform a systematic review of the literature on the use of intravenous lidocaine in pediatrics for status epilepticus (SE) and refractory status epilepticus (RSE) to determine its impact on seizure control. Methods: All articles from MEDLINE, BIOSIS, EMBASE, Global Health, HealthStar, Scopus, Cochrane Library, the International Clinical Trials Registry Platform (inception to November 2014), and gray literature were searched. The strength of evidence was adjudicated using both the Oxford and GRADE methodology by two independent reviewers. Results: Overall, 20 original studies were identified, with 19 manuscripts and 1 meeting abstracts. Two hundred and thirty-five pediatric patients were treated for 252 episodes of SE/RSE. Patients had varying numbers of anti-epileptic drugs (AEDs), 2 to 8, on board prior to lidocaine therapy. During 20 of the 252 (7.9%) episodes of SE/RSE, phenytoin was on board. The dose regimen of lidocaine varied, with some utilizing bolus dosing alone; others utilizing a combination of bolus and infusion therapy. Overall, 60.0% of seizures responded to lidocaine, with complete cessation and greater than 50% reduction seen in 57.6% and 12.3% respectively. Patient outcomes were sparingly reported. Conclusions: There currently exists level 2b, GRADE C evidence to support the consideration of lidocaine for SE and RSE in the pediatric population. A.02The long-term outcome of children with refractory epilepsy after a vagal nerve stimulator implantation: CHU Sainte-Justine experiencedoi: 10.1017/cjn.2015.62Background: Debate persists in Canada about the cost and benefit of vagal nerve stimulation in patients with refractory epilepsy. The aim of our study was to evaluate the impact of a vagal nerve stimulator on the seizure frequency and the admission rate of children with refractory epilepsies over five years of follow-up. Methods: 52 patients were implanted between 2000-2013. Of these, 37 were followed at CHU Sainte-Justine and 21 kept seizure diaries. Seizure frequency was compared to the baseline at 6 months, 12 months, 24 months and 60 months of follow up using a multivariate
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