Authors :
Presenting Author: HYOBIN KIM, MD – Sungkyunkwan University, School of Medicine, Samsung Medical Center
Jeehun Lee, MD – Sungkyunkwan University, School of Medicine, Samsung Medical Center; Jiwon Lee, MD – Sungkyunkwan University, School of Medicine, Samsung Medical Center; Byung Chan Lim, MD – Seoul National University Children’s Hospital; Mi-Sun Yum, MD – Asan Medical Center Children’s Hospital; Hunmin Kim, MD – Seoul National University Bundang Hospital; Jon Soo Kim, MD – Chungbuk National University Hospital; Sun Ah Choi, MD – Ewha Womans University Mokdong Hospital; Min-Jee Kim, MD – Asan Medical Center Children’s Hospital; Woo Joong Kim, MD – Seoul National University Children’s Hospital; Hyewon Woo, MD – Chungbuk National University Hospital; Ji Yeon Han, MD – Seoul National University Bundang Hospital; Minhye Kim, MD – Seoul National University Children’s Hospital; Hye Jin Kim, MD – Seoul National University Children’s Hospital
Rationale:
There is a lack of cohort study to evaluate etiology, treatment and clinical outcome for IESS with non-lesion brain MRIs. This study aims to delineate treatment response and prognosis of patients with IESS having normal brain MRIs through the retrospective review of multi-center cohort data of Korean pediatric patients with IESS.
Methods:
This study included patients who were diagnosed with IESS between 2010 and 2022 and were followed up more than two years, whose brain MRIs were normal. The six tertiary hospitals in South Korea joined to this study. We reviewed their demographic characteristics, initial treatments, work-ups for etiologies, clinical outcomes and comorbidities.
Results:
A total of 435 patients with IESS enrolled in this cohort. A total of 99 patients (15.5%, F:M = 49:50) showed normal brain MRIs. Their mean age of spasms onset was 8.4 months (2SD, ±7.7 months; range, 0~37 months).
Ninety-one patients (92%) experienced spasms as the first seizure, eight (8%) had been had other seizures before the onset of spasms; six generalized seizure, one focal seizure, and one unknown type of seizure.
The types of spasms were consisted of mixed spasms (flexor and extensor) in 12, flexor in 56, extensor in 18, and unknown in 13 patients. Five patients had a family history of epilepsy.
Prior to IESS, 47 (47.5%) had normal development, 33 (33.3%) had delayed developments, and 19 (19.2%) patients had no available data for developmental state. One year after the onset of IESS, 21 (21.2%) had normal developments and 71 (71.7%) had delayed developmental milestones. Among patients with normal development before the onset of spasms, 29 (61.7%) showed developmental delay one year after onset of spasms.
Genetic and metabolic work-up, treatments, and clinical outcome data are summarized in Table 1 or 2.
Conclusions:
Among 83 patients having no relapse of spasms, 84% were treated with vigabatrin ± steroids. On the last follow-up, a half patients (n=50) showed complete remission of seizure without anti-seizure medications (ASM) and 22 (22.2%) had no seizure with keeping ASM. Twenty-five patients had recurrent seizures despite on taking ASM, and eleven of them were LGS evolved from IESS. As neurodevelopmental comorbidities, ADHD and cognitive impairment were diagnosed in 32.3% and 25.3%, respectively.
Despite they were IESS with normal brain MRIs, there were very few cases of genetic testing (n=38, 38.3%) and fourteen patients of them showed positive results. To find out the accurate etiology and prognosis in IESS patients with normal brain MRIs, active consideration of genetic evaluation and regular follow-up for development and comorbidities are required based on the prospective cohort study.
Funding: No funding was received to support this abstract.