Characteristically due to deficiencies/defects of enzymes affecting respiratory (electron-transport) chain, Krebs cycle, &/or other components of energy production by mitochondria
Other entities can be included in this categorization; those listed here most commonly encountered in children
IMAGING
General Features
CT Findings
MR Findings
Nuclear Medicine Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Image Interpretation Pearls
Selected References
Bindu PS et al: Magnetic resonance imaging correlates of genetically characterized patients with mitochondrial disorders: a study from south India. Mitochondrion. 25:6-16, 2015
Bindu PS et al: Electro-clinical features and magnetic resonance imaging correlates in Menkes disease. Brain Dev. 35(5):398-405, 2013
Lebre AS et al: A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency. J Med Genet. 48(1):16-23, 2011
Diogo L et al: Value of brain magnetic resonance imaging in mitochondrial respiratory chain disorders. Pediatr Neurol. 42(3):196-200, 2010
Friedman SD et al: The use of neuroimaging in the diagnosis of mitochondrial disease. Dev Disabil Res Rev. 16(2):129-35, 2010
Kumakura A et al: Diffusion-weighted imaging in preclinical Leigh syndrome. Pediatr Neurol. 41(4):309-11, 2009
Lee HF et al: Leigh syndrome: clinical and neuroimaging follow-up. Pediatr Neurol. 40(2):88-93, 2009
Abe K et al: Comparison of conventional and diffusion-weighted MRI and proton MR spectroscopy in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like events. Neuroradiology. 46(2):113-7, 2004
Gago LC et al: Intraretinal hemorrhages and chronic subdural effusions: glutaric aciduria type 1 can be mistaken for shaken baby syndrome. Retina. 23(5):724-6, 2003
Rossi A et al: Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings. AJNR Am J Neuroradiol. 24(6):1188-91, 2003
Schon EA et al: Neuronal degeneration and mitochondrial dysfunction. J Clin Invest. 111:303-12, 2003
Twomey EL et al: Neuroimaging findings in glutaric aciduria type 1. Pediatr Radiol. 33(12):823-30, 2003
Flemming K et al: MR spectroscopic findings in a case of Alpers-Huttenlocher syndrome. AJNR Am J Neuroradiol. 23(8):1421-3, 2002
Related Anatomy
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Related Differential Diagnoses
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Pathology
TERMINOLOGY
Abbreviations
Mitochondrial encephalopathies (MEs)
Synonyms
Mitochondrial encephalomyelopathies
Definitions
Genetically based disorders of mitochondrial function resulting in progressive or intermittent brain injury
Subacute necrotizing encephalomyelopathy or Leigh syndrome (LS)
Characteristically due to deficiencies/defects of enzymes affecting respiratory (electron-transport) chain, Krebs cycle, &/or other components of energy production by mitochondria
Other entities can be included in this categorization; those listed here most commonly encountered in children
IMAGING
General Features
CT Findings
MR Findings
Nuclear Medicine Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Image Interpretation Pearls
Selected References
Bindu PS et al: Magnetic resonance imaging correlates of genetically characterized patients with mitochondrial disorders: a study from south India. Mitochondrion. 25:6-16, 2015
Bindu PS et al: Electro-clinical features and magnetic resonance imaging correlates in Menkes disease. Brain Dev. 35(5):398-405, 2013
Lebre AS et al: A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency. J Med Genet. 48(1):16-23, 2011
Diogo L et al: Value of brain magnetic resonance imaging in mitochondrial respiratory chain disorders. Pediatr Neurol. 42(3):196-200, 2010
Friedman SD et al: The use of neuroimaging in the diagnosis of mitochondrial disease. Dev Disabil Res Rev. 16(2):129-35, 2010
Kumakura A et al: Diffusion-weighted imaging in preclinical Leigh syndrome. Pediatr Neurol. 41(4):309-11, 2009
Lee HF et al: Leigh syndrome: clinical and neuroimaging follow-up. Pediatr Neurol. 40(2):88-93, 2009
Abe K et al: Comparison of conventional and diffusion-weighted MRI and proton MR spectroscopy in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like events. Neuroradiology. 46(2):113-7, 2004
Gago LC et al: Intraretinal hemorrhages and chronic subdural effusions: glutaric aciduria type 1 can be mistaken for shaken baby syndrome. Retina. 23(5):724-6, 2003
Rossi A et al: Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings. AJNR Am J Neuroradiol. 24(6):1188-91, 2003
Schon EA et al: Neuronal degeneration and mitochondrial dysfunction. J Clin Invest. 111:303-12, 2003
Twomey EL et al: Neuroimaging findings in glutaric aciduria type 1. Pediatr Radiol. 33(12):823-30, 2003
Flemming K et al: MR spectroscopic findings in a case of Alpers-Huttenlocher syndrome. AJNR Am J Neuroradiol. 23(8):1421-3, 2002
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