mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE)
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Pathology
- multisystem disorder
- diffuse leukoencephalopathy
Genetics
- autosomal recessive
- associated with defects in POLG, TYMP
- multiple deletions of mitochondrial DNA in skeletal muscle
Clinical manifestations
- onset between the 2nd & 5th decades of life
- ptosis
- progressive external ophthalmoplegia
- gastrointestinal dysmotility (often pseudoobstruction)
- thin body habitus
- peripheral neuropathy
- myopathy