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Resident PGY 2
Henry Ford Macomb
Case Presentation: Pediatric Patient With Rare Early-Onset Epilepsy Syndrome Presenting in Status Epilepticus ED Management of refractory status epilepticus in Pediatric Patient with Dravet Syndrome. 21 month old female with past medical history of Dravet Syndrome presenting to the ED via EMS for status epilepticus. Patients mother reported 20 minutes of seizure like activity at home described as focal right upper extremity twitching and fixed right gaze. She was given Diastat x 2 without improvement. Her mother reported compliance with prescribed Keppra at home. Denied recent illness, fevers, travel history, or head trauma. On arrival to the ED patient was demonstrating continued seizure like activity. Initial vital signs significant for tachycardia with bradypnea and was initially on supplemental oxygen via blow-by nasal cannula. POC glucose remained within normal limits. Labs obtained revealed no electrolyte derangements, signs of infection. Initial treatment included Ativan 1mg x2 without response. Patient required intubation with Rocuronium due to developing hypoxia. Due to continued subclinical seizure activity despite use of Keppra 20cc/kg, 1mg Versed x 3, a continuous Versed drip was then initiated. Patient had termination of seizures at that time. She was transferred to a tertiary center for escalation of care. Dravet Syndrome (DS), previously termed myoclonic epilepsy of infancy, is a rare syndrome of pediatric epilepsy that is notoriously difficulty to manage. It is typically caused by mutations in the alpha-1 subunit of the voltage-gated sodium channel gene (SCN1A) on chromosome 2q24. Majority of these mutations occur de novo, with approximately 10% attributed to familial mutations (1). Disease course typically occurs within the first year of life, without precipitating event for majority of patients. The characteristics of seizures associated with Dravet Syndrome are unique in that they have a multitude of seizure types, meaning a patient can have both focal and generalized seizure patterns. Other diagnostic criteria include refractory seizures that are unresponsive to antiepileptic treatments. As with most forms of epilepsy, patients with DS are esquisitely sensitive to external stimuli lowering seizure threshold including fever, vaccines, hot showers/baths, emotional stress, probing lights, and provoking visual stimuli. Treatment of DS typically requires dual anti-seizure therapy. Of note, anti-epileptics that work on sodium channel blockade should be avoided with patients who have DS as they exacerbate symptoms, leading to restricted availability of antiseizure treatments. Although strong evidence of successful management of DS with antiepileptics has been poorly studied, First line treatment is Valproate in addition to Clobazam (ONFI). Second line therapy for patients who have poor seizure control with above include Topiramate, Stiripentol, and Levtiracetam (1). Nonpharmaceutical adjuncts include ketogenic diet and potential surgical therapies including vagus nerve stimulation and deep brain stimulation. In July 2018 the FDA approved the use of Cannabidiol for adjunctive therapy in addition to standard pharmaceutical antiepileptic in children with DS. In the ED setting it is critical to manage different forms of epilepsy, and management of status epilepticus. Although studies are limited on gold standard treatment of status in DS patients, more effort should be attributed to protocols regarding difficult to treat epilepsy syndromes in the ED.
DiMichele, Alissa and Muir, Jason, "ED Management of Status Epilepticus in Pediatric Patient with Dravet Syndrome" (2019). Case Reports. 75.