Kearns-Sayre syndrome with reduced plasma and cerebrospinal fluid folate

Ann Neurol. 1983 Jun;13(6):679-82. doi: 10.1002/ana.410130620.

Abstract

A young woman with Kearns-Sayre syndrome and progressive central nervous system deterioration over 15 years had decreased plasma and cerebrospinal fluid folate levels while receiving phenytoin for a seizure disorder. A muscle biopsy showed a "ragged red fiber" myopathy with reduced muscle carnitine and mitochondrial enzymes. Computed tomographic brain scans showed cerebral white matter hypodensities and bilateral calcification of the basal ganglia. The mechanism for the folate deficiency and altered ratio of plasma to cerebrospinal fluid folate is unknown, but the deficiency may be responsive to replacement therapy.

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Carnitine / administration & dosage
  • Carnitine / deficiency
  • Child
  • Female
  • Folic Acid / administration & dosage
  • Folic Acid / blood
  • Folic Acid / cerebrospinal fluid
  • Folic Acid Deficiency / etiology*
  • Humans
  • Kearns-Sayre Syndrome / diagnosis
  • Kearns-Sayre Syndrome / drug therapy
  • Kearns-Sayre Syndrome / metabolism*
  • Methionine / administration & dosage
  • Mitochondria, Muscle / enzymology
  • Muscles / metabolism
  • Ophthalmoplegia / metabolism*
  • Time Factors

Substances

  • Folic Acid
  • Methionine
  • Carnitine