Abstracts

Rationale: The presentation and treatment of autoimmune epilepsies in children can be variable. There is little literature focused on children with antibody-mediated epilepsy. Children rarely have an associated neoplasm, compared to adults. We describe clinical presentation, therapeutics, and short-term outcomes in 2 pediatric patients with ANNA-1-related epilepsy.Methods: Review of 2 pediatric patients with ANNA-1-related epilepsy from the same institution including patient clinical presentation, seizure types, evaluations, and response to therapy.Results: Case 1: 11-year old boy who developed seizures at age 10 years, one year prior to evaluation at our institution. Initial seizures were consistent with epilepsia partialis continua (EPC) affecting the right lower extremity. Intermittently, these progressed to affect the right side of the body and occasionally evolved to bilateral convulsive seizure. Cerebrospinal fluid showed elevated IgG index and oligoclonal bands. CSF and serum ANNA-1 were postive (titers: serum 1:7680, CSF 1:256). The patient was treated with IV methylprednisolone 30 mg/kg for 5 days with excellent initial response with complete resolution of EPC and seizures. Plan to continue steroids failed with seizure and EPC recurrence. He started monthly cyclophosphamide 600 mg/m2 and oral prednisolone 1mg/kg/day. Two months later, mycophenolate mofetil 1000 mg/m2 and steroid wean were initiated. At last follow up, 7 months after diagnosis, patient was having rare EPC. Case 2: 17-year old girl with seizures since age 15, who presented to our institution for 2nd opinion in management. Seizures were initially focal dyscognitive with nausea, facial flushing, and expressive aphasia. These continued on a daily basis and were not initially recognized as seizure until patient had a series of generalized tonic clonic seizures and further evaluation was performed. Testing revealed elevated ANNA-1 serum titer of 1:30242. She was initially treated with IV methylprednisolone (unknown dose) for 5 days and then started on oral prednisone for the next several months in combination with valproate 1000 mg twice a day which was initially effective at eliminating seizures. However with exacerbating factors, such as illness, stress, or menses, seizures recurred up to 100 per day. Additional antiepileptic medications were trialed but discontinued due to lack of efficacy. IVIG was initiated 15 months after diagnosis and continued for 14 months without clear improvement in seizure control. Patient started treatment with mycophenolate mofetil 1000 mg/m2 3 months ago and phone interview indicates that she continues to have intractable seizures and encephalopathy at 29 months after initial diagnosis.Conclusions: Autoimmune epilepsy encapsulates a spectrum of disorders with large phenotypic variation in those affected. Early recognition is important given the potential response to immunotherapy. Antiepileptics had little effect on seizure control in our patients. This brief case series adds to this growing field.