Ophthalmologic manifestations in MELAS syndrome

Arch Neurol. 1993 Sep;50(9):977-80. doi: 10.1001/archneur.1993.00540090074013.

Abstract

We describe a 15-year-old boy with full-blown mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) and chronic progressive external ophthalmoplegia (CPEO). He presented with visual disturbance, hearing impairment, continuous partial epilepsy on the right aspect of the face, and right hemiparesis since the age of 13. Four months later, he experienced another strokelike episode with continuous partial epilepsy on the left hand. Serial computed tomographic scans revealed bilateral parieto-occipital hypodense lesions with gyral enhancement and an additional low-density lesion in the right frontal area 4 months later, respectively. Results of laboratory examinations disclosed lactic acidosis and mitochondrial myopathy with many ragged-red fibers. To identify the defective gene in mitochondrial DNA, a simple molecular test was performed by using restriction endonuclease Apa I. A transition from A to G was found at nucleotide position 3243 of the tRNA(Leu) gene. Interestingly, the patient also had marked external ophthalmoplegia and ptosis commonly found in patients with CPEO. Therefore, we suggest that ophthalmoplegia also occurs in the MELAS syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Base Sequence
  • DNA, Mitochondrial / genetics*
  • Frontal Lobe / diagnostic imaging
  • Frontal Lobe / pathology
  • Humans
  • Kearns-Sayre Syndrome / complications
  • MELAS Syndrome / complications*
  • MELAS Syndrome / diagnostic imaging
  • MELAS Syndrome / genetics
  • MELAS Syndrome / pathology
  • MERRF Syndrome / complications
  • Male
  • Molecular Sequence Data
  • Mutation
  • Ophthalmoplegia, Chronic Progressive External / complications*
  • Ophthalmoplegia, Chronic Progressive External / genetics
  • Ophthalmoplegia, Chronic Progressive External / pathology
  • Radiography

Substances

  • DNA, Mitochondrial