Partial NADH dehydrogenase defect presenting as spastic cerebral palsy

Brain Dev. Sep-Oct 1994;16(5):393-5. doi: 10.1016/0387-7604(94)90127-9.

Abstract

Mitochondrial myopathies are heterogeneous disorders. They may present at any age with a variable clinical course. We report a 6-year-old boy presenting as spastic cerebral palsy for 4 years, then athetotic movements and loss of milestones. He was eventually found to have NADH dehydrogenase deficiency.

Publication types

  • Case Reports

MeSH terms

  • Athetosis / enzymology
  • Athetosis / pathology
  • Athetosis / physiopathology
  • Cerebellar Ataxia / enzymology
  • Cerebellar Ataxia / pathology
  • Cerebellar Ataxia / physiopathology
  • Cerebral Palsy / enzymology*
  • Cerebral Palsy / pathology
  • Cerebral Palsy / physiopathology
  • Child
  • Humans
  • Male
  • Mitochondria, Muscle / enzymology
  • Mitochondrial Myopathies / enzymology*
  • Mitochondrial Myopathies / pathology
  • Mitochondrial Myopathies / physiopathology
  • Motor Skills / physiology
  • Muscle Spasticity / enzymology
  • Muscle Spasticity / pathology
  • Muscle Spasticity / physiopathology
  • Muscles / enzymology
  • Muscles / pathology
  • NADPH Dehydrogenase / deficiency*

Substances

  • NADPH Dehydrogenase