Abstracts

Rationale: We report a case of super refractory status epilepticus (SRSE) in an 8 year old female patient with congenital brain anomalies and developmental delays. She failed aggresive treatment and died from complications. We suspect a primary rare genetic abnormality that was associated with a metabolic myopathy and contributed to the unsuccessful management of SRSE. Post mortem evaluation and genetic testing were performed to delineate this. Methods: Case report: We present an 8 year female with no family history of genetic diseases. She had a prior developmental history of delayed motor milestones and cognitive difficulties. She developed new onset generalized tonic-clonic seizures which were refractory to antiepileptic medications (AEDs). A year later she presented in non convulsive status epilepticus. This was refractory to several AEDs, intravenous vitamin B6 to treat a borderline low serum level, intravenous infusions of pentobarbital, propofol, and ketamine. Vagal nerve stimulator was implanted and therapy was initiated with standard parameters. The electrographic seizures returned with every attempt to gradually taper anesthetics and pentobarbital. Hypothermia was performed for 72 hours with a target of 30 degrees Celsius. Within 24 hours she developed moderate metabolic acidosis. During rewarming she developed severe metabolic acidosis leading to acute renal failure and life threatening cardiac arrhythmias followed by bradycardia and ultimately pulseless electric activity. She failed attempts to resuscitate her and passed away. Brain imaging, autopsy findings, muscle biopsy, genetic testing, and metabolic studies were reviewed. Results: Our patient had features of Aicardi syndrome along with evidence of an underlying metabolic disorder. Her presentation did not fit classically into any well-recognizable genetic syndrome and included microcephaly, Chiari II with C4-C7 syrinx, callosal dysgenesis, gray matter heterotopia, learning disabilities, ADHD, fine motor delays, failure to thrive, short stature, epilepsy and SRSE. The severe metabolic acidosis during rewarming was likely a consequence of a disturbance in mitochondrial energy metabolism. Further testing revealed a negative single nucleotide polymorphism array and a muscle biopsy consistent with metabolic myopathy with moderate lipid droplets.The brain autopsy findings will be presented. The whole genome and exome sequencing test is pending and results will be presented. Conclusions: We present an interesting case of an 8 year female with a primary genetic abnormality who did not survive aggressive management of SRSE with pharmacological therapies, neurostimulation, and hypothermia. The whole genome and exome sequencing test is pending and will provide valuable information regarding primary genetic alterations that will explain the multitude of findings, thus revealing a rare genetic disorder with progressive epilepsy. This case report is valuable in recognizing a cause of SRSE in children.