Mitochondrial disorders

A.Prof Frank Gaillard et al.

There are numerous mitochondrial disorders that affect the neurological and muscular systems in a variety of ways: 

Pathology

As spermatozoa are deficient of mitochondria, these diseases are only inherited from the mother. The genes are located in mitochondrial DNA (mtDNA) of which there is a degree to heterogeneity within the one individual: not all mitochondria share the same genetic material. The percentage of affected mitochondria will dictate the degree to which the disease is clinically manifested 1.

Radiographic features

The findings are variable ranging from specific findings (uncommon), non-specific abnormalities (most common) as well as normal appearing studies 5. Findings are discussed separately for each condition listed above but as a general rule of thumb bilateral deep grey matter involvement and peripheral white matter delayed myelination in young adults or children should suggest the diagnosis. This is especially the case if associated with an elevated lactate level on MRS.

Inborn errors of metabolism
White matter disorders
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Article information

rID: 1682
Section: Gamuts
Synonyms or Alternate Spellings:
  • Mitochondrial diseases
  • Mitochondrial disorder
  • Mitochondrial disease

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Cases and figures

  • Leigh disease FLAIR
    Case 1: Leigh disease
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  • Case 2: MELAS
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  • Case 3: POLG1 mutation
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