Since its debut in the 1960s, the broad use and availability of benzodiazepines has mirrored the increased incidence of overdose cases. Due to its non-specic presentation, there is often a delay in diagnosis. We report a case of Benzodiazepine toxicity in a 70-year-old man who presented to us in a comatose state. He was evaluated at another hospital initially and was intubated in view of his low Glasgow Coma scale. A CT brain plain study was done suspecting a basilar artery thrombus and he was referred to us for Neuro-Interventional procedures. As radiological, laboratory and electrophysiological investigations were unremarkable a provisional diagnosis of drug intoxication was made after patient medication review and a trial of Flumazenil was given, after which the patient had improved dramatically. Flumazenil is not routinely used due to fears of withdrawal seizures and its high cost. It also has no effect on reversing sedation caused by barbiturates, ethanol, or opioids. The antidote has a favorable risk-benet ratio when dosed appropriately and can be a helpful diagnostic tool after ruling out the more common causes of acute sensorium loss as demonstrated by this case report.
Purpose Children with refractory focal to bilateral tonic-clonic seizures, despite normal high-resolution imaging, are often not subjected to genetic tests due to the costs involved and instead undergo multimodality presurgical evaluation targeted at delineating a focal onset. The objective of this study was to ascertain genotype-phenotype correlations in this group of patients. Method An online hospital database search was conducted for children who presented in 2019 with drug-resistant epilepsy dominated by nonlateralizing focal-onset/rapid generalized (bilateral) tonic-clonic seizures (GTCS), subjected to presurgical evaluation and subsequent genetic testing due to absence of a clear focus hypothesis. Results Phenotypic homogeneity was apparent in 3 children who had onset in infancy with drug-resistant GTCS (predominantly unprovoked and occasionally fever provoked) and subsequent delayed development. 3-Tesla magnetic resonance imaging (MRI) scans were negative and video EEG documented a homogeneous pattern of multifocal and/or generalized epileptiform discharges with phenomenology favoring probable focal-onset/generalized-onset bilateral tonic-clonic seizures. All 3 tested positive for SCN1A gene variants (heterozygous missense substitution variants in 2 children, one of which was novel and a novel duplication in one that led to frameshift and premature truncation of the protein), suggestive of SCN1A-mediated epilepsy. This electroclinical profile constituted 3 out of 25 patients with SCN1A-epilepsy phenotypes at our center. Conclusions These cases suggest that children with early-onset drug-resistant “generalized” epilepsy are likely to have a genetic basis although the presentation may not be typical of Dravet syndrome. Hence, genetic testing for SCN1A variants is recommended in children with drug-resistant MRI negative focal-onset/generalized-onset bilateral tonic-clonic seizures before subjecting them to exhaustive presurgical workup and to guide appropriate treatment and prognostication.
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