Characterization of Children with Pyridoxine Dependent Epilepsy at a Single Pediatric Hospital
Abstract number :
1.244
Submission category :
3. Neurophysiology / 3A. Video EEG Epilepsy-Monitoring
Year :
2024
Submission ID :
1075
Source :
www.aesnet.org
Presentation date :
12/7/2024 12:00:00 AM
Published date :
Authors :
Presenting Author: Hui LI, MD, PhD – Baylor College of Medicine - - Hosuton, TX
Alexander Sandweiss, MD, PhD – Baylor College of Medicine
Turner Clay Glenn, BS – Baylor college of medicine
Deborah Oluwagbermisola Babalola, BS – Baylor College of Medicine
Cristina Trandafir, MD, PhD – Baylor College of Medicine
Maria El-Hallal, MD – Baylor College of Medicine
Rationale: Pyridoxine dependent epilepsy (PDE) is a rare early onset epileptic encephalopathy syndrome with excellent response to pyridoxine supplementation. Clinical and electrographic recognition are critical for early diagnosis and intervention to minimize developmental deterioration while confirmatory genetic studies are pending.
Methods: This is a single center retrospective analysis of children with PDE. We identified 13 patients with PDE, all of whom had genetic confirmation of a pathogenic ALDH7A1 variant. We found no children with other PDE-related variants. Demographic data, EEG, neuroimaging studies and developmental outcomes were extracted by chart review.
Results: 12/13 (92%) patients had seizure onset within the first week of life. All patients had documented developmental delay of varying severity. One patient had documented normal cognitive function by neuropsychology testing. The most common interictal finding was multifocal epileptiform discharges, found in 8/13 (61.5%) patients. Background suppression was an early EEG finding in 6/13 (46.2%) patients, of which 4/6 (66.6%) patients had burst suppression as neonates. The most commonly reported MRI finding was punctate/small infarcts/hemorrhage when patients were admitted for seizure workup.
Conclusions: Multifocal epileptiform discharges are the most common interictal finding in patients with PDE. Voltage suppression or attenuation was a common EEG background found in neonatal EEGs. MRIs frequently exhibit small/punctate hemorrhage or infarct in patients with acute seizure exacerbations.
Funding: none
Neurophysiology