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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)
- Pantothenate kinase-associated neurodegeneration (PKAN)
- Glutaric acidurias, type 1 (GA-1) & type 2 (GA-2)
- MELAS (myopathy, encephalopathy, lactic acidosis, & stroke-like episodes)
- Kearns-Sayre syndrome (KSS)
- Menkes disease (trichopoliodystrophy)
- Alpers disease
- Friedreich ataxia
- 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
- Genetically based disorders of mitochondrial function resulting in progressive or intermittent brain injury
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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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)
- Pantothenate kinase-associated neurodegeneration (PKAN)
- Glutaric acidurias, type 1 (GA-1) & type 2 (GA-2)
- MELAS (myopathy, encephalopathy, lactic acidosis, & stroke-like episodes)
- Kearns-Sayre syndrome (KSS)
- Menkes disease (trichopoliodystrophy)
- Alpers disease
- Friedreich ataxia
- 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
- Genetically based disorders of mitochondrial function resulting in progressive or intermittent brain injury
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
