Succinate in dystrophic white matter: a proton magnetic resonance spectroscopy finding characteristic for complex II deficiency

Ann Neurol. 2002 Jul;52(1):38-46. doi: 10.1002/ana.10232.

Abstract

A deficiency of succinate dehydrogenase is a rare cause of mitochondrial encephalomyopathy. Three patients, 2 sisters and 1 boy from an unrelated family, presented with symptoms and magnetic resonance imaging signs of leukoencephalopathy. Localized proton magnetic resonance spectroscopy indicated a prominent singlet at 2.40ppm in cerebral and cerebellar white matter not present in gray matter or basal ganglia. The signal was also elevated in cerebrospinal fluid and could be identified as originating from the two equivalent methylene groups of succinate. Subsequently, an isolated deficiency of complex II (succinate:ubiquinone oxidoreductase) was demonstrated in 2 patients in muscle and fibroblasts. One of the sisters died at the age of 18 months. Postmortem examination showed the neuropathological characteristics of Leigh syndrome. Her younger sister, now 12 months old, is also severely affected; the boy, now 6 years old, follows a milder, fluctuating clinical course. Magnetic resonance spectroscopy provides a characteristic pattern in succinate dehydrogenase deficiency.

Publication types

  • Case Reports

MeSH terms

  • Brain / enzymology
  • Brain / pathology
  • Child
  • Dementia, Vascular / diagnosis*
  • Dementia, Vascular / enzymology*
  • Dementia, Vascular / genetics
  • Electron Transport Complex II
  • Female
  • Humans
  • Infant
  • Magnetic Resonance Spectroscopy*
  • Male
  • Multienzyme Complexes / deficiency*
  • Multienzyme Complexes / genetics
  • Oxidoreductases / deficiency*
  • Oxidoreductases / genetics
  • Pedigree
  • Protons
  • Succinate Dehydrogenase / deficiency*
  • Succinate Dehydrogenase / genetics

Substances

  • Multienzyme Complexes
  • Protons
  • Oxidoreductases
  • Electron Transport Complex II
  • Succinate Dehydrogenase