Adult-onset Leigh′s disease: A rare entity

Abstract

Leigh syndrome (LS) is a heterogeneous familial or sporadic neurodegenerative disorder. It is typically seen in infancy or childhood, although rare cases of adult onset have been described. The authors describe a 37-year-old woman who presented with protracted gastrointestinal symptoms followed by acute brain stem syndrome with severe metabolic acidosis and who subsequently showed dramatic clinical and neuroradiological improvement.

Keywords

• Adult onset
• brain stem hyperintensities
• bulbar palsy
• Leigh′s disease
• serum lactate