Article Text

Findings that shed new light on the possible pathogenesis of a disease or an adverse effect
Mitochondrial disease mimicking Charcot–Marie Tooth disease
  1. M Needham1,
  2. J Duley2,
  3. S Hammond3,
  4. G K Herkes4,
  5. M Hirano5,
  6. C M Sue6
  1. 1
    Department of Neurology, Royal North Shore Hospital and University of Sydney, Sydney, New South Wales, Australia
  2. 2
    Chemical Pathology, Mater Health Services, Brisbane, Australia
  3. 3
    Department of Neurology, Orange Base Hospital, Sydney, New South Wales, Australia
  4. 4
    Department of Neurology, Royal North Shore Hospital and University of Sydney, New South Wales, Australia
  5. 5
    Department of Neurology, College of Physicians and Surgeons, Columbia University, New York City, New York, USA
  6. 6
    Department of Neurology, Royal North Shore Hospital and University of Sydney, New South Wales, Sydney, Australia
  1. C M Sue, csue{at}med.usyd.edu.au

Summary

Charcot–Marie tooth disease (CMT) is a heterogenous group of peripheral neuropathies caused by various genetic defects. Three cases of mitochondrial myopathy, neuropathy and gastrointestinal encephalopathy (MNGIE) which initially presented with a peripheral neuropathy resembling CMT are described here. The diagnosis in all three cases was made after they developed eye signs and abdominal complaints. Young patients with mutation negative CMT should be followed up to monitor for signs of MNGIE.

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Footnotes

  • Competing interests: none.

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