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사립체 효소 결함과 신경학적 증상을 보이는 환아의 임상양상과 검사소견 -증례 보고-

Other Titles
 Clinical and Laboratory Features of Children with Mitochondrial Respiratory Chain Enzyme Complexes Defect and Neurological Abnormalities: A case report 
 안승준  ;  박은숙  ;  이영목  ;  김세훈  ;  김동진  ;  나동욱 
 Journal of the Korean Academy of Rehabilitation Medicine (대한재활의학회지), Vol.33(1) : 118-122, 2009 
Journal Title
Journal of the Korean Academy of Rehabilitation Medicine(대한재활의학회지)
Issue Date
Mitochondrial cytopathy ; Mitochondrial respiratory chain enzyme complexes ; Magnetic resonance spectroscopy
Mitochondrial cytopathies represent a heterogeneous group of multisystem disorder that preferentially affects the muscle and nervous systems. Mitochondrial respiratory chain enzyme complexes (MRC) defect can be the cause of many unexplained neurological disorders including epilepsy, cerebral palsy, delayed development and hypotonia. We retrospectively reviewed clinical and laboratory features of 16 patients who showed defects in MRC activity, confirmed by biochemical assay from spectrophotometry in muscles to characterize clinical and laboratory features for MRC defects and provide more precise diagnosis and effective treatments. In the patients with uncontrolled seizure activity, developmental regression, characteristic features of bilateral symmetric high signal intensity at deep nucleus and/or white matter in T2WI, the mitochondrial cytopathies should be added to the list of differential diagnoses. And lactate elevation in magnetic resonance spectroscopy (MRS) can be useful in the diagnosis of mitochondrial cytopathies.
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1. College of Medicine (의과대학) > Dept. of Rehabilitation Medicine (재활의학교실) > 1. Journal Papers
Yonsei Authors
Rha, Dong Wook(나동욱) ORCID logo https://orcid.org/0000-0002-7153-4937
Park, Eun Sook(박은숙) ORCID logo https://orcid.org/0000-0002-9144-3063
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