Abstracts

Rationale:
New-onset refractory status epilepticus (NORSE) is a life-threatening condition with acute onset of refractory status epilepticus (RSE), without a clear etiology, in a previously healthy patient. While chronic epilepsy can be expected, medical literature documenting patients with recurrent RSE following a prior NORSE episode is sparse.




This case report helps to understand one such patient with devastating RSE, by examining the epidemiology, clinical characteristics, imaging findings, laboratory results and treatment challenges. Our patient recovered fully after her initial NORSE presentation; however, had significant deficits after her second episode. Her presentation was consistent with cryptogenic NORSE (C-NORSE), scoring 5/6 on the C-NORSE scale.




Methods: 16-year-old female was on a school trip visiting United States from Spain. She presented to ED with altered mental status and recurrent left arm shaking episodes. She had a history of NORSE while in Spain, where she required intubation and was discharged home on anti-seizure medications (ASMs) including Lacosamide and Brivaracetam. This time after being seizure free for 10 months, she was again in status epilepticus (SE) requiring multiple ASMs including continuous midazolam IV, ketamine infusion followed by steroids. The plan was to start Anakinra, but she developed Methicillin-sensitive Staphylococcus aureus and Pseudomonas infections requiring antibiotics, delaying the introduction of immunomodulatory therapies. She also developed an acute kidney injury followed by metabolic acidosis requiring hemodialysis, pleural effusion, and possible thrombotic thrombocytopenic purpura requiring plasmapheresis. She had a sub-optimal response to Anakinra. The patient had recurrent episodes of fever and SE requiring titration of ASMs and was eventually placed on a vagal nerve stimulator (VNS). After a 60-day hospital stay, she was discharged back to Spain for inpatient rehabilitation. At discharge, she was awake and alert, had weakness of LUE 2/5 and both LE 3/5, able to sit with support, communicate in short sentences, respond to questions, and watch her favorite show on iPad.

Results: Brain imaging showed right cerebral cortical restricted diffusion and expansile T2 FLAIR hyperintensity. CSF and serum autoimmune work-up was unremarkable. Serial cytokine panels identified elevated inflammatory markers; however limited data was available to target treatment against a specific inflammatory marker (Il-6 vs Il-1beta). Whole genome sequencing showed variants of uncertain significance. Despite extensive testing, etiology for the recurrence of her RSE remained unclear.

Conclusions: Our case is unique as it highlights the complexity and severity of recurrent SE after NORSE without an identifiable cause. The patient’s hospital course included severe complications, emphasizing the need for further research to better understand the mechanism and effective treatment strategy. The use of cytokine panels and genetic testing has potential to customize management, guide future research and therapeutic targets. The placement of a VNS was necessary due to the refractory nature of the seizures, demonstrating the challenges in managing such cases.

Funding: None