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

18 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

All Science Journal Classification (ASJC) codes

  • Radiology Nuclear Medicine and imaging

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