Abstracts

Rationale: Typically, cerebral folate deficiency causes developmental delay and movement disorders. Approximately one-third of patients with cerebral folate deficiency develop epilepsy. The goal of this study was to review the clinical characteristics of epilepsy patients with cerebral folate deficiency.Methods: The charts of patients with cerebral folate deficiency who were seen at our tertiary epilepsy center in the past two years were reviewed.Results: Four patients with cerebral folate deficiency have been evaluated at our epilepsy center. One patient presented with a well-controlled symptomatic partial seizure disorder of right hemisphere origin, encephalopathy characterized by pervasive developmental disorder, mild left upper extremity weakness, and scoliosis. In addition to cerebral folate deficiency, she was also found to have Rett syndrome by DNA testing. Another patient presented with intractable partial seizures with secondary generalization, encephalopathy, and spastic quadriplegia. After being diagnosed with cerebral folate deficiency and treated with leucovorin, her seizure frequency improved. One patient who was known to have cerebral folate deficiency was transferred from an outside hospital for epilepsia partialis continua. He was treated with IVIG for suspected Rasmussen’s encephalitis. When this failed, he underwent hemispherectomy. The pathologic findings were consistent with Rasmussen's encephalitis. One patient with cerebral folate deficiency presented with intractable generalized tonic-clonic seizures. She has failed treatment with vagus nerve stimulation, more than 15 medications, anterior corpus callosotomy, bilateral frontal-parietal multiple subpial transection, and the ketogenic diet. She had some improvement on leucovorin but continued to have seizures. She was found to have antibodies to the folate receptor and has responded to treatment with prednisone. Conclusions: The clinical manifestations of cerebral folate deficiency are variable. As this condition is treatable with leucovorin, patients with intractable seizures of unknown etiology should undergo lumbar puncture to assay neurotransmitters.