Clinical and Laboratory Features of Children with Mitochondrial Respiratory Chain Enzyme Complexes Defect and Neurological Abnormalities: A case report.
- Author:
Seung Joon AHN
1
;
Eun Sook PARK
;
Young Mock LEE
;
Se Hoon KIM
;
Dong Jin KIM
;
Dong Wook RHA
Author Information
1. Department and Research Institute of Rehabilitation Medicine, Yonsei University College of Medicine, Korea. medicus@yuhs.ac
- Publication Type:Case Report
- Keywords:
Mitochondrial cytopathy;
Mitochondrial respiratory chain enzyme complexes;
Magnetic resonance spectroscopy
- MeSH:
Cerebral Palsy;
Child;
Diagnosis, Differential;
Electron Transport;
Epilepsy;
Humans;
Kearns-Sayre Syndrome;
Lactic Acid;
Magnetic Resonance Spectroscopy;
Mitochondrial Myopathies;
Muscle Hypotonia;
Muscles;
Nervous System;
Nervous System Diseases;
Retrospective Studies;
Seizures;
Spectrophotometry
- From:Journal of the Korean Academy of Rehabilitation Medicine
2009;33(1):118-122
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
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.
