Partial cytochrome b deficiency and generalized dystonia

Pediatr Neurol. Nov-Dec 1990;6(6):407-10. doi: 10.1016/0887-8994(90)90010-x.

Abstract

An 18-year-old female had clinical features of idiopathic torsion dystonia with bilateral hypodense putaminal lesions on computed tomography. Mitochondrial encephalomyopathy was suspected because of persistent lactic acidemia and myopathy. Studies of oxidative metabolism on isolated skeletal muscle mitochondria revealed partial cytochrome b deficiency indicating a defect in the cytochrome b- c1 complex. This finding represents a unique, multisystem syndrome of progressive dystonia, putaminal degeneration, myopathy, and mitochondrial cytochrome b deficiency. Mitochondrial metabolic disorders may be a cause of torsion dystonia when other known associated factors are absent.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Cytochrome b Group / deficiency*
  • Dystonia Musculorum Deformans / enzymology*
  • Female
  • Humans
  • Mitochondria, Muscle / enzymology
  • Muscles / enzymology
  • Nerve Degeneration / physiology
  • Putamen / pathology
  • Syndrome

Substances

  • Cytochrome b Group