Abstracts

Rationale:
We present a case series of patients with focal epilepsy associated with neuronal acetylcholine receptor antibodies. To date, there has not been any literature regarding the relationship between epilepsy in the clinical setting and this antibody. Nicotinic ganglionic acetylcholine receptor antibody (α3-AChR Ab) are known to cause a subacute autoimmune dysautonomia. α3-AChR are in the autonomic ganglia and in mouse studies, sensory dorsal root ganglia, trigeminal ganglia, besides the brain[1, p. 3]. At high titer values >1.0 nmol/L, patients develop pandyautonomia: impaired pupillary light reflex, anhidrosis, orthostatic hypotension, gastrointestinal dysmotility, and bladder dysfunction. Only 1 patient out of the 155 subjects had limbic encephalitis[2]. All patients in our case series had elevated serum AChR Ab (0.1-0.2 nmol/L).
Method:
This is a case series on 3 epileptic patients with α3-AChR Ab.
Results:
Case 1. A 33-year-old female with history of PTSD, anxiety and depression who had seizure onset at age 25 years with an aura of fear and diffuse chills/warmth, mirthless laughter, repeats ""I'm sorry"", bimanual and oral automatisms, and bilateral hypermotor movements.  She initially had 10 seizures per day.  EEG captured F8/T2 interictal discharges (IEDs) and right temporal seizures.  Her MRI brain and body PET were normal.  Previously treated with Levetiracetam, Valproic Acid, and Clonazepam.  Currently on Clobazam and Oxcarbazepine with 1-2 seizures daily.  Planning to treat with IV Solu-Medrol.   Case 2. A 58-year-old male with history of antiphospholipid antibody syndrome was referred for memory decline. He described daily 30-second episodes of a rising feeling from his lower body through his chest associated with nausea and occasional visual phenomena, but no alteration of consciousness. EEG captured 3 right temporal seizures per night consisting of brief arousal, oral automatisms and independent right and left temporal IEDs. Neuropsychological testing identified significant impairments in executive functioning, verbal and non-verbal memory.    Case 3. A 25-year-old female presented with severe, refractory status epilepticus after one week of headaches, epistaxis, night sweats, excessive thirst and malaise. α3-AChR Ab was positive and her clinical condition gradually deteriorated for three years, resulting in up to 3 convulsions per month and disabling encephalopathy despite multiple AEDs, trial of VNS and IVIG.  EEG showed generalized/multifocal IEDs and seizures with right head version followed by GTC, without localization. MRI revealed mild diffuse atrophy and asymmetric (left >right) hippocampal atrophy. α3-AChR Ab repeated confirmed positivity. 3 months after rituximab and adjustment of AEDs, seizures declined and cognition improved where she is now independent in ADLs.
Conclusion:
We report 3 cases of medically intractable encephalitis/epilepsy with highly variable presentations, all associated with positive α3-AChR Ab as the only anti-neuronal antibody and identifiable etiology.
Funding:
:None