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Neuroradiologic findings in children with mitochondrial disorder: correlation with mitochondrial respiratory chain defects.

 Jinna Kim  ;  Seung-Koo Lee  ;  Eung Yeop Kim  ;  Dong Ik Kim  ;  Young-Mock Lee  ;  Joon Soo Lee  ;  Heung Dong Kim 
 EUROPEAN RADIOLOGY, Vol.18(8) : 1741-1748, 2008 
Journal Title
Issue Date
Adolescent ; Brain/pathology* ; Brain Diseases/pathology* ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Magnetic Resonance Imaging/methods* ; Male ; Mitochondrial Diseases/diagnosis* ; Sensitivity and Specificity ; Statistics as Topic
Brain ; Magnetic resonance imaging ; Mitochondrial disorder
Mitochondrial disorders are a heterogeneous group of disorders affecting energy metabolism that can present at any age with a wide variety of clinical symptoms. We investigated brain magnetic resonance (MR) findings in 40 children with defects of the mitochondrial respiratory chain (MRC) complex and correlated them with the type of MRC defects. Enrolled were 40 children with MRC defects in biochemical enzyme assay of the muscle specimen. Twenty-one children were found to have classical syndromes of mitochondrial disorders and 19 children presented nonspecific mitochondrial encephalomyopathies. Their brain MR imaging findings were retrospectively reviewed and correlated with the biochemical defect in the MRC complex. Children with MRC defects showed various neuroradiologic features on brain MR imaging that resulted from a complex genetic background and a heterogeneous phenotype. Rapid progression of atrophy involving all structures of the brain with variable involvement of deep gray and white matter are the most frequent MR findings in children with MRC defects in both classical syndromes of mitochondrial disorder and nonspecific mitochondrial encephalomyopathies. The type of biochemical defect in the MRC complex enzyme did not correlate with brain MR findings in child patients
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1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Radiology (영상의학교실) > 1. Journal Papers
Yonsei Authors
Kim, Dong Ik(김동익)
Kim, Eung Yeop(김응엽)
Kim, Jinna(김진아) ORCID logo https://orcid.org/0000-0002-9978-4356
Kim, Heung Dong(김흥동) ORCID logo https://orcid.org/0000-0002-8031-7336
Lee, Seung Koo(이승구) ORCID logo https://orcid.org/0000-0001-5646-4072
Lee, Young Mock(이영목) ORCID logo https://orcid.org/0000-0002-5838-249X
Lee, Joon Soo(이준수) ORCID logo https://orcid.org/0000-0001-9036-9343
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