A Case Series of Seizures and EEG Features in PCDH19 Related Epilepsy
Abstract number :
2.115
Submission category :
4. Clinical Epilepsy / 4A. Classification and Syndromes
Year :
2023
Submission ID :
783
Source :
www.aesnet.org
Presentation date :
12/3/2023 12:00:00 AM
Published date :
Authors :
Presenting Author: Dina Soloveychik, MD – Ann & Robert H. Lurie Children's Hospital of Chicago
Rebecca Garcia Sosa, MD – Ann & Robert H. Lurie Children's Hospital of Chicago
Rationale: PCDH-19 related epilepsy is a genetic, childhood onset epilepsy and neuro-developmental disorder that has been characterized by seizure onset prior to three years of age, developmental delay, behavioral disturbances, and autistic features, seen mostly in females. Previous studies have described patients with PCDH-19 related epilepsy as having clusters of both febrile and afebrile seizures with seizure semiology including both generalized and focal seizures. The aim of this case series was to describe seizure semiology and EEG features of patients with PCDH-19 related epilepsy to facilitate potential earlier recognition and diagnosis by delineating clinical and electrographic features of PCDH-19 related epilepsy.
Methods: This was a retrospective case series performed via chart review of patients with a genetic diagnosis of a pathogenic variant in PCDH19 as well as epilepsy seen in the Epilepsy Center at Ann & Robert H. Lurie Children’s Hospital of Chicago between 2021-2023. Nine patients were identified ranging in age from one to sixteen years old. Seizure semiology, seizure frequency, seizure duration, EEG background features, EEG inter-ictal characteristics and EEG ictal semiology were obtained through review of the patients' electronic medical record and available EEG data.
Results: A total of 9/9 of the patients had seizures that had been described clinically as focal with initial symptom of behavioral arrest. A total of 7/9 were described to have respiratory changes during their seizure with either apnea, oxygen desaturations, or peri-oral cyanosis. A total of 3/9 were described to have features of clinically generalized onset seizures (generalized tonic clonic or atypical absence). A total of 8/9 of the patients had diffuse slowing on EEG with 6/9 having focal slowing on at least one EEG. A total of 2/9 patients did not have any epileptiform discharges seen on EEG. A total of 6/9 had focal discharges and 2/9 had diffuse discharges on at least one EEG. Electrographic ictal data was available for 8/9 patients with 6/9 patient with focal onset seizures and 3/9 with generalized onset seizures. 8/9 patients were taking at least two antiseizure medications at time of last follow up with 5/9 taking at least three antiseizure medications.
Conclusions: In this case series, the majority of patients had at least one seizure type that was characterized as focal onset with behavioral arrest as part of the semiology. Respiratory changes with oxygen desaturations and cyanosis were common amongst patients with PCDH-19 related epilepsy. EEG findings in this cohort included diffuse and focal slowing as well as focal discharges on at least one EEG. These findings suggest that patients with PCDH-19 related epilepsy frequently have focal seizures with impaired awareness as well as respiratory changes, but that overall EEG background tends to be more suggestive of diffuse cortical dysfunction, occasionally with features of focal epileptogenic potential that can arise from either hemisphere. Based on this data, a diagnosis of PCDH-19 related epilepsy should be strongly considered in young females who present with focal seizures with impaired awareness and respiratory changes, especially with poor response to initial medication trials.
Funding: None
Clinical Epilepsy