Age-Based Characteristics of West Syndrome in Patients with Mitochondrial Disease
2
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
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.
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.
참고문헌 (41)
- 이영목, "여러 가지 대사질환에서의 간질", Clinical and Experimental Pediatrics, 51(12), pp.1290~1294 (2008), 대한소아청소년과학회
- Eom S, "Cause of death in children with mitochondrial diseases", Pediatr Neurol, 66, pp.82~88 (2017)
- Kisler JE, "Mitochondrial diseases in childhood: a clinical approach to investigation and management", Dev Med Child Neurol, 52, pp.422~433 (2010)
- Eom S, "Preliminary study of neurodevelopmental outcomes and parenting stress in pediatric mitochondrial disease", Pediatr Neurol, 71, pp.43~49 (2017)
- Riikonen R., "Long-term outcome of patients with West syndrome", Brain Dev, 23, pp.683~687 (2001)
- Lúthvígsson P, "Epidemiologic features of infantile spasms in Iceland", Epilepsia, 35, pp.802~805 (1994)
- Sidenvall R, "Epidemiology of infantile spasms in Sweden", Epilepsia, 36, pp.572~574 (1995)
- Baram TZ, "High-dose corticotropin (ACTH) versus prednisone for infantile spasms: a prospective, randomized, blinded study", Pediatrics, 97, pp.375~379 (1996)
- Hussain SA, "Treatment of infantile spasms with very high dose prednisolone before high dose adrenocorticotropic hormone", Epilepsia, 55, pp.103~107 (2014)
- Go CY, "Evidence-based guideline update: medical treatment of infantile spasms. Report of the guideline development subcommittee of the American academy of neurology and the practice committee of the child neurology society", Neurology, 78, pp.1974~1980 (2012)
- Lee YM, "Mitochondrial respiratory chain defects: underlying etiology in various epileptic conditions", Epilepsia, 49, pp.685~690 (2008)
- Bernier FP, "Diagnostic criteria for respiratory chain disorders in adults and children", Neurology, 59, pp.1406~1411 (2002)
- Fisher RS, "Instruction manual for the ILAE 2017 operational classification of seizure types", Epilepsia, 58, pp.531~542 (2017)
- Lake NJ, "Leigh syndrome:one disorder, more than 75 monogenic causes", Ann Neurol, 79, pp.190~203 (2016)
- Kwan P, "Definition of drug resistant epilepsy: consensus proposal by the ad hoc task force of the ILAE commission on therapeutic strategies", Epilepsy, 51, pp.1069~1077 (2010)
- Hamano S, "Developmental outcomes of cryptogenic West syndrome", J Pediatr, 150, pp.295~299 (2007)
- Hamano S, "Longterm follow-up study of West syndrome: differences of outcome among symptomatic etiologies", J Pediatr, 143, pp.231~235 (2003)
- Lagae L, "Treatment and long term outcome in West syndrome: the clinical reality. A multicentre follow up study", Seizure, 19, pp.159~164 (2010)
- Kaushik JS, "Clinical spectrum and treatment outcome of West syndrome in children from Northern India", Seizure, 22, pp.617~621 (2013)
- Pellock JM, "Infantile spasms: a U.S. consensus report", Epilepsia, 51, pp.2175~2189 (2010)
- Gastaut H, "An electroclinical study of generalized epileptic seizures of tonic expression", Epilepsia, 4, pp.15~44 (1963)
- Hrachovy RA, "Hypsarrhythmia: variations on the theme", Epilepsia, 25, pp.317~325 (1984)
- Chiron C, "Therapeutic trial of vigabatrin in refractory infantile spasms", J Child Neurol, (Suppl 2), pp.S52~S59 (1991)
- Aicardi J, "Vigabatrin as initial therapy for infantile spasms: a European retrospective survey", Epilepsia, 37, pp.638~642 (1996)
- Gul Mert G, "Risk factors affecting prognosis in infantile spasm", Int J Neurosci, 127, pp.1012~1018 (2017)
- Koenig MK., "Presentation and diagnosis of mitochondrial disorders in children", Pediatr Neurol, 38, pp.305~313 (2008)
- Parikh S, "Diagnosis and management of mitochondrial disease: a consensus statement from the mitochondrial medicine society", Genet Med, 17, pp.689~701 (2015)
- Tarnopolsky M, "Diagnostic utility of a modified forearm ischemic exercise test and technical issues relevant to exercise testing", Muscle Nerve, 27, pp.359~366 (2003)
- Suomalainen A, "FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study", Lancet Neurol, 10, pp.806~818 (2011)
- Davis RL, "Fibroblast growth factor 21 is a sensitive biomarker of mitochondrial disease", Neurology, 81, pp.1819~1826 (2013)
- Khatami A, "Brain MRI findings in infantile spasm: outcome correlations in a patient cohort", Open J Med Imaging, 6, pp.80~92 (2016)
- Saltik S, "Magnetic resonance imaging findings in infantile spasms: etiologic and pathophysiologic aspects", J Child Neurol, 18, pp.241~246 (2003)
- Saltik S, "Informative value of magnetic resonance imaging and EEG in the prognosis of infantile spasms", Epilepsia, 43, pp.246~252 (2002)
- Nordli DR Jr, "The ketogenic diet revisited: back to the future", Epilepsia, 38, pp.743~749 (1997)
- Freeman JM, "The efficacy of the ketogenic diet-1998: a prospective evaluation of intervention in 150 children", Pediatrics, 102, pp.1358~1363 (1998)
- Kang HC, "Early- and late-onset complications of the ketogenic diet for intractable epilepsy", Epilepsia, 45, pp.1116~1123 (2004)
- Eun SH, "Ketogenic diet for treatment of infantile spasms", Brain Dev, 28, pp.566~571 (2006)
- Kang HC, "Diet therapy in refractory pediatric epilepsy:increased efficacy and tolerability", Epileptic Disord, 8, pp.309~316 (2006)
- Freeman J, "The ketogenic diet: from molecular mechanisms to clinical effects", Epilepsy Res, 68, pp.145~180 (2006)
- Nordli DR Jr, "Experience with the ketogenic diet in infants", Pediatrics, 108, pp.129~133 (2001)
- Kang HC, "Efficacy and safety of the ketogenic diet for intractable childhood epilepsy:Korean multicentric experience", Epilepsia, 46, pp.272~279 (2005)