Age-Based Characteristics of West Syndrome in Patients with Mitochondrial Disease.
10.26815/jkcns.2018.26.4.197
- Author:
Young Ha CHOI
1
;
Min Seong BAEK
;
Ji Hoon NA
;
Hoon Chul KANG
;
Joon Soo LEE
;
Heung Dong KIM
;
Young Mock LEE
Author Information
1. Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea. ymleemd@yuhs.ac
- Publication Type:Original Article
- Keywords:
Mitochondrial disease;
West syndrome;
Epilepsy;
Lactic acidosis;
Spasm
- MeSH:
Acidosis, Lactic;
Brain;
Epilepsy;
Humans;
Infant;
Infant, Newborn;
Ketogenic Diet;
Lactic Acid;
Magnetic Resonance Imaging;
Mitochondrial Diseases*;
Retrospective Studies;
Seizures;
Spasm;
Spasms, Infantile*
- From:
Journal of the Korean Child Neurology Society
2018;26(4):197-204
- CountryRepublic of Korea
- Language:English
-
Abstract:
PURPOSE: West syndrome is a severe form of age-specific epilepsy that typically affects infants younger than 2 years of age with mitochondrial disease. We aimed to examine age-specific characteristics of the syndrome in these patients. METHODS: We retrospectively analyzed 54 patients with West syndrome diagnosed with mitochondrial disease between March 2006 and March 2016. We compared treatment strategies and diagnostic and clinical variables between patients with early-onset ( < 6 months of age) and late-onset (≥6 months of age) seizures. RESULTS: Seizure was the first symptom in 30 (90.9%) and 13 (65%) patients of the early-onset and late-onset groups, respectively (P=0.046). Delayed development was observed in 3 (9.1%) and 7 (35%) patients of the early-onset and late-onset groups, respectively (P=0.023). Lactate levels were normal in 17 patients (55%) of the early-onset group and 5 (25%) of the late-onset group (P=0.036), while initial brain magnetic resonance imaging (MRI) findings were normal in 23 (67.6%) and 8 (40%) patients of the early-onset and late-onset groups, respectively. Final MRI findings were abnormal in 32 patients (94.1%) of the early-onset group and 18 (90%) of the late-onset group (P=0.036). Although ketogenic diets reduced seizure frequency in both groups, the difference was not significant. CONCLUSION: There is no significant difference in epilepsy-related variables when patients are divided based on a cut-off age of 6 months. However, differences in the first symptom at onset and MRI findings were observed. Although lactate levels were not of significant diagnostic value in the early-onset group, they may be in the late-onset group.
