Magnetic resonance imaging and spectroscopy of progressive cerebral involvement in Kearns Sayre Syndrome

J Neurol Sci. 1996 Feb;135(2):126-30. doi: 10.1016/0022-510x(95)00290-i.

Abstract

Kearns Sayre Syndrome (KSS) belongs to the group of so called 'mitochondrial encephalopathies'. Magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) may have the potential to noninvasively detect and monitor disease specific cerebral involvement, as we wish to demonstrate in a patient whom we have followed for 3.5 years. At first presentation with incomplete external ophthalmoplegia, ptosis, pigmentary retinopathy and impaired hearing MRI demonstrated ill defined areas of symmetric T2-prolongation in the dorsal parts of the mesencephalon, the pons and in both cerebellar hemispheres. While the patients clinical symptoms deteriorated, including the onset of dysphagia, signal abnormalities spread downwards into the medulla oblongata involving the glossopharyngeal nuclei and supratentorially into the white matter. Proton MRS performed with the PRESS sequence (TR/TE 1500/136 ms) in the area of white matter damage showed a doublet at 1.33 ppm, which is characteristic for the presence of lactate. Our findings suggest MRI abnormalities to increase in parallel with neurologic progression of KSS and confirm the utility of 1H-MRS in supporting mitochondrial respiratory chain insufficiency as the underlying cause of parenchymal alterations.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Brain / pathology*
  • Follow-Up Studies
  • Humans
  • Lactates / metabolism
  • Magnetic Resonance Imaging
  • Male
  • Mitochondria / pathology
  • Ophthalmoplegia, Chronic Progressive External / pathology*

Substances

  • Lactates