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

Research output: Contribution to journalArticle

17 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1741-1748
Number of pages8
JournalEuropean Radiology
Volume18
Issue number8
DOIs
Publication statusPublished - 2008 Aug 1

Fingerprint

Mitochondrial Diseases
Electron Transport
Mitochondrial Encephalomyopathies
Brain
Magnetic Resonance Spectroscopy
Magnetic Resonance Imaging
Enzyme Assays
Energy Metabolism
Atrophy
Phenotype
Muscles
Enzymes

All Science Journal Classification (ASJC) codes

  • Radiology Nuclear Medicine and imaging

Cite this

Kim, Jinna ; Lee, Seung Koo ; Kim, Eung Yeop ; Kim, Dong Ik ; Lee, Young Mock ; Lee, Joon Soo ; Kim, Heung Dong. / Neuroradiologic findings in children with mitochondrial disorder : Correlation with mitochondrial respiratory chain defects. In: European Radiology. 2008 ; Vol. 18, No. 8. pp. 1741-1748.
@article{39ba0deaca804860bb97b7d6181f2cb4,
title = "Neuroradiologic findings in children with mitochondrial disorder: Correlation with mitochondrial respiratory chain defects",
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.",
author = "Jinna Kim and Lee, {Seung Koo} and Kim, {Eung Yeop} and Kim, {Dong Ik} and Lee, {Young Mock} and Lee, {Joon Soo} and Kim, {Heung Dong}",
year = "2008",
month = "8",
day = "1",
doi = "10.1007/s00330-008-0921-1",
language = "English",
volume = "18",
pages = "1741--1748",
journal = "European Radiology",
issn = "0938-7994",
publisher = "Springer Verlag",
number = "8",

}

Neuroradiologic findings in children with mitochondrial disorder : Correlation with mitochondrial respiratory chain defects. / Kim, Jinna; Lee, Seung Koo; Kim, Eung Yeop; Kim, Dong Ik; Lee, Young Mock; Lee, Joon Soo; Kim, Heung Dong.

In: European Radiology, Vol. 18, No. 8, 01.08.2008, p. 1741-1748.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Neuroradiologic findings in children with mitochondrial disorder

T2 - Correlation with mitochondrial respiratory chain defects

AU - Kim, Jinna

AU - Lee, Seung Koo

AU - Kim, Eung Yeop

AU - Kim, Dong Ik

AU - Lee, Young Mock

AU - Lee, Joon Soo

AU - Kim, Heung Dong

PY - 2008/8/1

Y1 - 2008/8/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=48949116277&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=48949116277&partnerID=8YFLogxK

U2 - 10.1007/s00330-008-0921-1

DO - 10.1007/s00330-008-0921-1

M3 - Article

C2 - 18389251

AN - SCOPUS:48949116277

VL - 18

SP - 1741

EP - 1748

JO - European Radiology

JF - European Radiology

SN - 0938-7994

IS - 8

ER -