Abstracts

Rationale: Status epilepticus is the most common neurological emergency in children. We report a 13-year-old girl with gradual cognitive decline, cerebellar ataxia and refractory epilepsy. She developed refractory status epilepticus 8 years after the onset of her symptoms. Extensive evaluations lead to the detection of adrenal tumor that was confirmed to be a ganglioneuroma at surgery. Aggressive immunotherapy and tumor removal lead to improvement in seizure control and neurological status. Methods: A 13-year-old girl was transferred to our critical care unit for management of refractory status epilepticus. She had a history of medically refractory epilepsy from the age of 8. She developed memory and personality changes preceding the diagnosis of epilepsy. At age 7, stomach ache issues arise. Extensive gastrointestinal evaluation was normal. Sudden diplopia occurred at around the same time and was surgically corrected. From 7 years of age, she experienced slow progressive gait difficulties affecting her coordination and dysarthria. Her first obvious seizure occurred at age 8. Initial seizures were complex partial seizures with fear, whole body tremor like movements and confused behavior. Later she developed seizures described as epigastric and visual auras of seeing bright lights. Brief generalized tonic seizures involving the upper body also occurred 1-4 times/day. Extensive work up for genetic and metabolic disorder has been negative except for detection of oligoclonal bands, elevated neopterin and low BH4 in the CSF. Screening for tumors with CT chest abdomen and pelvis revealed non enhancing left adrenal mass with normal metanephrine. Series of abdomen ultrasound showed stable left adrenal mass. Results: After transfer to our center, repeat imaging studies of the brain and adrenal showed stable findings. Autoimmune workup was repeated and remained positive for oligoclonal band and elevated neopterin in CSF. At this time, paraneoplastic panel showed immunoreactivity suggesting an anti-purkinje cell like antibody in the CSF and serum. A possibility of chronic autoimmune paraneoplastic encephalitis was considered. Aggressive immunotherapy including plasma exchange was given. Left adrenal mass was resected 1.5 months after transfer. Seizures improved and she was weaned off Pentobarbital 3 weeks after the resection. She was discharged to a rehabilitation hospital 1 month after the resection. At the time of discharge, she had very few brief non-disabling seizures/day and slowly improving towards her baseline. Her seizure frequency remains stable and she continues to improve towards her baseline neurological function 3 months after discharge from our center. Conclusions: Patients with refractory multifocal epilepsy, refractory status epilepticus and MRI signal abnormalities should also be thoroughly worked up for autoimmune encephalitis and paraneoplastic syndrome. To our knowledge, there is no prior report of adrenal ganglioneuroma associated with refractory epilepsy, cerebellar ataxia and cognitive decline. Identification of etiology is important as etiology focused treatment may lead to the resolution of the status epilepticus.