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Table 2 Case Box 1

From: General principles and escalation options of immunotherapy in autoantibody-associated disorders of the CNS

A 20-year-old man was admitted to our department due to generalized epileptic seizures since 13 months. In addition, he complained about absence episodes and myoclonic twitching up to 10-15 times a day. Previous diagnostic work-up revealed minimal swelling of the left amygdala without any further relevant abnormalities. Generalized seizures could be completely controlled with lamotrigine and brivaracetam, however absence episodes and myoclonic twitching persisted. Assuming possible autoimmune epilepsy cortisone therapy (a total of 5 cycles of 5 g methylprednisolone every 4 weeks) had been tried without any improvement and the patient was referred to our department for a second opinion.
Diagnostic work-up revealed a granulocytic pleocytosis in the CSF as well as anti-glycine receptor antibodies in serum (1:32) while CSF anti-glycine receptor antibodies were negative. Herein we performed combined apheresis therapy with four cycles of plasma exchange (PE) and two cycles of immunoadsorption (IA), followed by a cycle of proteasome inhibitor bortezomib (4 x 2.5 mg). This led to dramatic improvement of seizure frequency and a drop of anti-glycine receptor antibody titers to 1:10. Myoclonic twitches were absent, however shortly after discharge the frequency of absence episodes rose again. Therefore, a second cycle of immunoadsorption followed by 60 g of intravenous immunoglobulins was performed. The absence episodes decreased again and did not occur afterwards. Due to the suggestion of a relapsing course of the disease rituximab was initiated as long-term therapy