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

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Title: Neuroradiologic findings in children with mitochondrial disorder: correlation with mitochondrial respiratory chain defects.
Authors: Kim J (AUTHOR), Lee SK (AUTHOR), Kim EY (AUTHOR), Kim DI (AUTHOR), Lee YM (AUTHOR), Lee JS (AUTHOR), Kim HD (AUTHOR), Kim, Jinna1 (AUTHOR), Lee, Seung-Koo (AUTHOR), Kim, Eung Yeop (AUTHOR), Kim, Dong Ik (AUTHOR), Lee, Young-Mock (AUTHOR), Lee, Joon Soo (AUTHOR), Kim, Heung Dong (AUTHOR)
Source: European Radiology. Aug2008, Vol. 18 Issue 8, p1741-1748. 8p.
Abstract: 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. [ABSTRACT FROM AUTHOR]
Copyright of European Radiology is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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  Data: Neuroradiologic findings in children with mitochondrial disorder: correlation with mitochondrial respiratory chain defects.
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  Data: <searchLink fieldCode="JN" term="%22European+Radiology%22">European Radiology</searchLink>. Aug2008, Vol. 18 Issue 8, p1741-1748. 8p.
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  Data: 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. [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of European Radiology is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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