Epileptic Spasm Diagnosed in Adult EMU: Heterogeneity of Clinical Characteristics, EEG, Brain Imaging Findings, and Genetic Test Results
Abstract number :
1.188
Submission category :
4. Clinical Epilepsy / 4A. Classification and Syndromes
Year :
2023
Submission ID :
149
Source :
www.aesnet.org
Presentation date :
12/2/2023 12:00:00 AM
Published date :
Authors :
Presenting Author: Ning Zhong, MD, PhD – Kaiser Permanente Sacramento Medical Center
Dorris Luong, N.P. – Neurology – Kaiser Permanente Sacramento Medical Center; Emily Huang, BA – Molecular and Cell Biology – University of California, Berkeley
Rationale: Epileptic spasms (ES) are a distinct type of seizure characterized by brief contractions of the axial muscles, exhibiting flexion, extension, or mixed posturing. Typically, ES onset and diagnosis occur in children under the age of one, with rare cases occurring in children over two years old. ES can persist beyond infancy and may either continue without interruption or go into remission, only to reappear later in adult life. The clinical spasms observed in older individuals resemble those seen in infants. The true scenario of adult-onset ES remains controversial. ES in adults is often underrecognized, leading to drug-resistant epilepsy (DRE), developmental delay, and a diminished quality of life. The objective of this study is to provide a comprehensive description of the clinical characteristics, EEG findings, imaging studies, and genetic test discoveries in five patients with ES.
Methods: The study enrolled patients without a previous diagnosis of ES. The diagnosis was confirmed by a team of adult and pediatric epileptologists who carefully reviewed the video EEG monitoring.
Results: All patients included in the study had experienced drug-resistant epilepsy and varying degrees of intellectual development delay (ID) before being referred to the epilepsy center. With the exception of one patient, the onset of seizures occurred after the age of three. Prior to undergoing evaluation in the Epilepsy Monitoring Unit (EMU), none of the patients had received a documented diagnosis of ES. The ES episodes were described by patients and their families as "grand mal seizures" or "drop seizures." In addition to ES, other types of seizures were also reported and recorded during video EEG (vEEG) monitoring. The vEEG data were presented to the families of the patients, and only one patient was confirmed to have adult-onset ES, while the other patients developed spastic episodes following their initial seizure events. As summarized in Table 1, the ictal EEG changes were similar across all cases during ES episodes, although only one patient exhibited interictal findings consistent with hypsarrhythmia. The brain MRI results revealed diverse findings among the patients. Through NGS epilepsy panel tests, multiple gene variants were discovered, including MAGEL2, MDH2, UBE3A, and GABRAB3, which have been reported to be associated with ES.
Conclusions: Our study provides additional confirmation that adult-onset ES is indeed a rare occurrence. It is highly probable that ES episodes were misidentified as other types of seizures when evaluated by general neurologists instead of epileptologists. Furthermore, our investigation revealed considerable heterogeneity in terms of EEG findings, brain imaging results, and the identified gene variants through testing. While the recognition of ES during adulthood is less likely to impact the pre-existing intellectual development delay (ID), the EEG findings, identified lesions on brain MRI, and discovered gene variants can assist clinicians in further exploring the potential for palliative epilepsy surgical interventions and making personalized choices regarding anti-seizure medications.
Funding: None
Clinical Epilepsy