| Clinical and Laboratory Features of Children with Mitochondrial Respiratory Chain Enzyme Complexes Defect and Neurological Abnormalities: A case report. |
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Ahn, Seung Joon , Park, Eun Sook , Lee, Young Mock , Kim, Se Hoon , Kim, Dong Jin , Rha, Dong Wook |
1Department and Research Institute of Rehabilitation Medicine, Yonsei University College of Medicine, Korea. medicus@yuhs.ac
2Department Pediatrics, Yonsei University College of Medicine, Korea.
3Department Pathology, Yonsei University College of Medicine, Korea. |
| 사립체 효소 결함과 신경학적 증상을 보이는 환아의 임상양상과 검사소견 -증례 보고- |
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안승준, 박은숙, 이영목1, 김세훈2, 김동진, 나동욱 |
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연세대학교 의과대학 재활의학교실 및 재활의학연구소, 1소아과학교실, 2병리학교실 |
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| Abstract |
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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. (J Korean Acad Rehab Med 2009; 33: 118-122) |
| Key Words:
Mitochondrial cytopathy, Mitochondrial respiratory chain enzyme complexes, Magnetic resonance spectroscop |
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