Clinical Features and Associated Factors of Epilepsy in Patients with Tuberous Sclerosis Complex: A Retrospective Observational Study
Abstract number :
1.194
Submission category :
4. Clinical Epilepsy / 4A. Classification and Syndromes
Year :
2023
Submission ID :
698
Source :
www.aesnet.org
Presentation date :
12/2/2023 12:00:00 AM
Published date :
Authors :
Presenting Author: Kim Eon Ah, MD – Asan Medical Center Children’s Hospital
Min-Jee Kim, MD,PhD – Asan Medical Center Children’s Hospital; Mi-sun Yum, MD,PhD – Asan Medical Center Children’s Hospital; Hyun-Jin Kim, MD – Asan Medical Center Children’s Hospital; Seoung-won Seo, MD – Asan Medical Center Children’s Hospital; Tae-sung Ko, MD,PhD – Asan Medical Center Children’s Hospital
Rationale: This study aims to describe the broad spectrum of clinical features and identify associated factors for neurologic and extra-neurologic manifestations in patients with tuberous sclerosis complex (TSC) syndrome.
Methods: This observational study was conducted at Asan Medical Center Children’s Hospital in Korea using data which were retrieved from 302 patients with TSC diagnosed in January 2001 to January 2022. The patients’ medical records were retrospectively reviewed, and clinical features and genetic finding were assessed.
Results: A total 233 patients with 50.2% of male who followed more than two years were finally included in this study. Among 127 patients (55.6%) who performed TSC1/2 gene test, 73.2 % of patients identify the variant in TSC1 or TSC2 gene at 12.1 years old of mean age at the diagnosis. Approximately 93.3% (208/223) of patients had neurologic manifestation including cortical tuber (186/208, 89.4%), epilepsy (163/208, 78.4%), intellectual disability (79/208, 35.4%), and subependymal giant cell astrocytoma (SEGA; 24/208, 11.5%). The most common extra-neurologic feature was skin (223, 100%) followed by renal angiomyolipoma (143, 64.1%), cardiac rhabdomyoma (100, 44.8%), retinal hamartoma (47, 21.1%), and lung lymphangioleiomyomatosis (9, 4.0%). Consistent with previous studies, the TSC2 mutation were significantly associated with extra-neurologic manifestations (p = 0.043) including retinal hamartoma (p = 0.032). Interestingly, the thalamic lesions in magnetic resonance imaging (MRI) were significantly related to early onset age of epilepsy (p = 0.003) and status epilepticus (p = 0.024).
Conclusions: Overall multidisciplinary awareness and evaluation, including genetic test and neuro-imaging, are vital for early diagnosis and adequate management of TSC. Further studies to determine the predictive factors of disease outcome are urgently needed.
Funding: This research was supported by a grant of the Korea Health Technology R&D Project through the Korea Health Industry Development Institute (KHIDI), funded by the Ministry of Health & Welfare, Republic of Korea (grant number : HI19C0481, HC20C0164)
Clinical Epilepsy