Authors :
Presenting Author: Hyewon Woo, MD – Chungbuk National University Hospital
Min-Jee Kim, Reaserch prefessor – Asan Medical Center Children’s Hospital University of Ulsan College of Medicine; Sun Ah Choi, Clinical professor – Ewha Womans University Mokdong Hospital; Minhye Kim, Clinical fellow – Seoul National University Children's Hospital; Hye Jin Kim, Clinical fellow – Seoul National University Children's Hospital; Ji Yeon Han, Clinical professor – Seoul National University Bundang Hospital; Woo Joong Kim, Clinical professor – Seoul National University Children's Hospital; Jiwon Lee, Clinical professor – Sungkyunkwan Uinversity, School of Medicine, Samsung Medical Center; Jon Soo Kim, Clinical professor – Chungbuk National University Hospital; Hunmin Kim, Professor – Seoul National University Bundang Hospital; Jeehun Lee, Professor – Sungkyunkwan Uinversity, School of Medicine, Samsung Medical Center; Byung Chan Lim, Professor – , Seoul National University Children's Hospital; Won Seop Kim, Professor – Chungbuk National University Hospital; Mi-Sun Yum, Professor – Asan Medical Center Children’s Hospital University of Ulsan College of Medicine
Rationale:
West syndrome (WS) is well-known as an epileptic encephalopathy that presents with epileptic spasms. However, many individuals with WS have underlying structural brain lesions or genetic causes as well as delayed development at the time of diagnosis. This study aimed to investigate the seizure and development outcomes in patients with WS and structural abnormalities using a retrospective multicenter cohort design.
Methods:
The cohort consisted of patients diagnosed with WS by clinicians and with at least two years of follow-up in five tertiary hospitals. Among 123 patients, we collected patients with abnormal brain imaging (N=90). Clinical data included seizure characteristics, medication, and intellectual disability (ID). We categorized into five groups according to brain MRI: hypoxic-ischemic encephalopathy (N=32), minor anomaly (N=20), malformation of cortical developments (N=16), tuberous sclerosis complex (N=10), and others (N=12).
Results:
Among 90 patients (age at diagnosis, median 6.7 months; follow-up duration, average 5.3 years), 71 patients (78.9%) continued seizures, including spasms or other seizure types, and nine patients (10%) transited to Lennox-Gastaut syndrome (six patients in the hypoxic-ischemic encephalopathy group). At the last follow-up, 73 of 77 patients (94.8%) showed ID. The tuberous sclerosis complex group showed that controls of spasms succeeded in 80%. However, 90% maintained antiseizure medications and 88.9% showed ID in the tuberous sclerosis complex group. Compared to other groups, the minor anomaly group showed relatively good seizure outcomes achieving both controls of spasms in 95% and antiseizure medications discontinuation in 30%, but most of those (N=14/16) showed ID at the last follow-up.
Conclusions:
Seizure outcomes in individuals with WS and structural abnormalities differed depending on the underlying conditions. Patients with minor anomalies showed relatively better seizure outcomes than those with extensively destructive brain lesions. Still, ID persists in most patients with WS and structural abnormalities despite achieving seizure freedom.
Funding: This research was supported and funded by SNUH Kun-hee Lee Child Cancer & Rare Disease Project, Republic of Korea. (Grant Number: 22C-005-0200)