Abstracts

Rationale: Rasmussen syndrome (RS) is a very rare chronic neurological disorder, characterized by unilateral inflammation and atrophy of the cerebral cortex, intractable epileptic seizures, and progressive neurological and cognitive deterioration. Most patients with RS have onset of seizures at the age of 2 to 10 years and there are few case reports on adult-onset RS. Here, we present a case of adult-onset RS in which seizure frequency was successfully reduced by intensive treatment. Methods: A 52-year-old right-handed female, without specific past clinical histories and familial histories, had focal cognitive seizure with expressive aphasia followed by convulsive status epilepticus at the age of 41. Her epileptic seizure had been intractable, and we performed necessary diagnostic procedures and several treatment strategies were being pursued. Results: Electroencephalogram revealed left posterior temporal spike and slow wave. She was diagnosed with epilepsy and antiepileptic drugs (AEDs) were prescribed, but her focal aware seizure (FAS) remained to occur on a daily basis. Comprehensive evaluation was performed at the age of 42. Neurological examination did not reveal any abnormalities except for mild expressive aphasia. Brain MRI showed atrophy of left cortex and basal ganglia. Tc-ECD SPECT showed hypoperfusion of left temporal cortex and left caudate. Cerebrospinal fluid analysis detected anti-GluN2B antibody and elevated level of granzyme B. Therefore, she was diagnosed with adult-onset RS. Base on the diagnosis, oral corticosteroid, tacrolimus, and repeated infusions of immunoglobulin (IVIg) were administrated. Her focal seizure frequency was reduced from daily to monthly basis. Intravenous methyl prednisolone (IVMP) was also administrated when she exhibited status epilepticus several times a year. However, the frequency of seizure had again increased gradually and she had become to demonstrate FAS and focal impaired awareness seizure (FIAS) on a daily and a weekly basis, respectively. Vagal nerve stimulation system (VNS) was implanted at the age of 50. Her AEDs were also rearranged at the age of 51. Her former AEDs were phenytoin, carbamazepine (CBZ), zonisamide (ZNS), lamotrigine (LTG), and levetiracetam. We challenged cessation of ZNS, dose increase of CBZ and LTG, and addition of clobazam. Eventually, she achieved seizure freedom for FIAS and focal to bilateral clonic-tonic seizure, although FAS was observed on a daily to a weekly basis. Conclusions: This case highlights the importance of intensive treatment including oral corticosteroid, T-cell inactivating drugs, IVIG, IVMP, VNS, and AEDs for seizure reduction in therapy of patients with adult-onset RS. Especially, in addition to basic immunotherapy, VNS along with the best-adjusted AEDs should be considered in progressive cases. Funding: No funding