Assessment and therapy monitoring of Leigh disease by MRI and proton spectroscopy

Pediatr Neurol. 1992 Jan-Feb;8(1):60-4. doi: 10.1016/0887-8994(92)90055-4.

Abstract

In a 2-year-old boy with Leigh disease, spasticity, dysarthria, and optic atrophy gradually developed. Computed tomography and magnetic resonance imaging disclosed progressive, symmetric basal ganglia lesions. In muscle tissue, a defect of pyruvate dehydrogenase complex was found. Magnetic resonance volume selective proton spectroscopy (MRVS) of the basal ganglia demonstrated an abnormal lactate peak. A ketonemic diet coincided with clinical stabilization and arrest of progressive brain lesions. Lactate could no longer be demonstrated by MRVS. It reappeared with a new brain lesion coinciding with discontinuation of the diet. MRVS, therefore, appears to be a sensitive tool to evaluate pathologic lactate production in metabolic brain disease with disturbed energy metabolism and allows noninvasive therapy monitoring.

Publication types

  • Case Reports

MeSH terms

  • Basal Ganglia / pathology*
  • Diagnosis, Differential
  • Fatty Acids, Volatile / administration & dosage
  • Humans
  • Lactates / metabolism*
  • Lactic Acid
  • Leigh Disease / diagnosis*
  • Leigh Disease / diet therapy
  • Leigh Disease / pathology
  • Magnetic Resonance Imaging*
  • Male
  • Muscles / pathology
  • Neurologic Examination
  • Spectrometry, X-Ray Emission*
  • Tomography, X-Ray Computed*

Substances

  • Fatty Acids, Volatile
  • Lactates
  • Lactic Acid