Grand RoundRefractory, life-threatening status epilepticus in a 3-year-old girl
Section snippets
Case presentation
A 3-year-old girl was admitted for the first time to our hospital because of status epilepticus. The girl was born to healthy, unrelated parents, who had an unremarkable family history, and her birth parameters were within the normal range. The girl had started to walk and had used single words at around 12 months. At 6 months, she had a right hemiclonic seizure 48 hours after being given pentavalent (pertussis, tetanus, diphtheria, inactivated polio, and haemophilus) vaccination. An
Differential diagnosis
During the past decades, diagnostic schemes have been developed for a rational clinical approach to management of patients with epilepsy.1, 2 An epileptic syndrome is a complex of signs and symptoms that define a unique epileptic condition;2 the epileptic syndromes of childhood include several conditions with different electroclinical features and variable outcomes. Although some syndromes are relatively easy to diagnose early in their course, others take time to develop, which hampers an
Treatment
Lamotrigine was slowly withdrawn in the intensive care unit, and the patient improved dramatically over 48 hours: the myoclonus disappeared and the laboratory parameters normalised. Because levetiracetam is well tolerated and has well known antimyoclonic properties, we considered levetiracetam therapy for our patient. The girl was discharged on levetiracetam (1000 mg/day) and phenobarbital (100 mg/day), which controlled her seizures satisfactorily.
SMEI
SMEI is a catastrophic epilepsy that starts during the first year of life and is characterised by early, prolonged febrile seizures followed by afebrile seizures of different types and psychomotor impairment.7, 8 Patients with SMEI can have nearly all seizure types, particularly myoclonic, absence, atonic, and partial seizures.
Simple motor-type partial seizures or complex partial seizures with prominent autonomic symptoms can manifest early and occur in 40–78% of patients, whereas tonic
Conclusions
Status epilepticus is a medical emergency in children, who are at high risk of mortality, particularly when the cause is not known.64, 65 Aggravation of epilepsy by the inappropriate use of antiepileptic drugs is a serious and common problem that is being increasingly recognised. However, it is rarely believed that the inappropriate use of an antiepileptic drug can induce status epilepticus. In patients with SMEI, there is a risk of aggravation with lamotrigine, as shown by the present case.
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From Genetic Testing to Precision Medicine in Epilepsy
2020, NeurotherapeuticsPharmacogenomics in epilepsy
2018, Neuroscience LettersCitation Excerpt :The broad phenotypic spectrum and heterogeneous aetiology make the choice of treatment both challenging and empirical: evidence-based information guiding clinicians on the most effective drug and dose for individual patients is lacking. Furthermore, AEDs can have many associated ADRs, some of which are severe and life-threatening [4]. A cross-sectional survey of 809 patients showed that 36.5% experienced one or more ADRs; these events were not related to the number of AEDs, but rather to individual susceptibility, the specific AED used and physicians’ skills [5].
Management of genetic epilepsies: From empirical treatment to precision medicine
2016, Pharmacological ResearchCitation Excerpt :These advances are likely to help to translate into personalized precision medicine and probably will lead to individualized treatments for individual patients. Treatment of epilepsy remains still largely empirical and individual prescribing based on the mechanism of action is generally not possible [4,5]. Individualized patient care is mainly limited by the broad phenotypic spectrum and by the heterogeneous underlying etiology.
Inhibitory interneuron deficit links altered network activity and cognitive dysfunction in alzheimer model
2012, CellCitation Excerpt :These results strongly suggest that VGSC hypofunction is causally linked to abnormal gamma activity and network hypersynchrony in hAPPJ20 mice. In agreement with our results, VGSC blockers also exacerbate seizure activity in human epilepsies due to Nav1.1 loss-of-function mutations (Liao et al., 2010; Striano et al., 2008). Aberrant network activity may contribute to cognitive deficits in hAPP mice (Ittner et al., 2010; Palop et al., 2007; Roberson et al., 2011).
Low long-term efficacy and tolerability of add-on rufinamide in patients with Dravet syndrome
2011, Epilepsy and BehaviorCitation Excerpt :This finding might point to a dysfunction of inhibitory mechanisms as a possible cause of epilepsy in DS. Other sodium channel blockers like carbamazepine, phenytoin, and lamotrigine are known to be associated with a high rate of exacerbation of epilepsy, particularly myoclonic and atypical absence seizures [24–27]. Therefore, it can be speculated that the low efficacy and high rate of seizure aggravation detected in our patients might be due to the mode of action of RUF as a sodium channel blocker.