Abstracts

Rationale: PCH19-related epilepsy is a distinctive clinical syndrome characterized by a constellation of symptoms but predominantly drug-resistant epilepsy, and there is currently no “gold standard” treatment. Symptoms include status epilepticus and clusters of seizures associated with fever, varying degrees of cognitive impairment, sleep disturbances, and psychiatric co-morbidities. Epilepsy surgery has not traditionally been considered a viable treatment option for these patients, given prior reports suggesting that PCDH19 mutations result in multifocal epilepsy, with scalp EEG demonstrating interictal spikes in temporal and parietal lobes as well as other brain regions. Here, we present two cases of PCDH19-related epilepsy who were successfully treated with temporal lobectomies.  Methods: We describe two patients with PCDH19-related epilepsy, treated with surgical resection of epileptogenic foci at our center, and present long-term follow-up data.  Results: Case 1: A 37-year-old left-handed woman presented with early-onset, drug-resistant cluster seizures. EEG showed right anterior temporal epileptiform discharges and ictal pattern showed posterior temporal onset. Brain MRI was normal. Interictal FDG-PET-CT showed right temporal hypometabolism. Wada revealed right-sided language with intact right-sided memory, so she underwent intracranial monitoring, which showed hippocampal onset to seizures. At this time, her niece was diagnosed with a PCDH19 mutation and she was found to have the same mutation. She went on to have a dominant right temporal lobectomy in 2011. Pathology was nondiagnostic. She had a transient mild anomia post-operatively which resolved by 3 months post-op. She has been seizure-free since surgery and tapered medications one year post-op. She continues to be gainfully employed and socially engaged. Case 2: A 19-year-old right-handed woman with early-onset, drug-resistant cluster seizures and co-morbid Asperger’s. EEG showed right temporal lobe seizures. Brain MRI was suggestive of mesial temporal sclerosis, and FDG-PET-CT demonstrated right temporal lobe hypometabolism. She underwent non-dominant right temporal lobectomy in 2018. Pathology demonstrated hippocampal sclerosis. She has been seizure-free since surgery and tapered one of her 2 medications post-operatively. She continues to be attending junior college. Conclusions: We present two patients with PCDH19-related epilepsy for whom temporal lobectomies were performed resulted in seizure freedom. Moreover, these patients continued to function well cognitively and socially, indicating surgical treatment in the appropriate patients is safe from a neuropsychiatric perspective. As such, epilepsy surgery is an effective treatment option for select patients with PCDH19-related epilepsy.  Funding: No funding