A Common Pathway for a Rare Disease?

摘要

Leigh syndrome is a fatal, infantile neurodegenerative disease first described more than 60 years ago (1). Children with Leigh syndrome typically are born with normal prenatal development, but decline after intermittent episodes of encephalopathy and metabolic acidosis, leading to death within the first few years of life. The diagnosis is based on magnetic resonance imaging of the brain, which reveals bilaterally symmetric lesions in the brain-stem and basal ganglia (see the figure) that correspond to regions of necrosis, gliosis, and hypervascularity, with relative sparing of neurons in the early stages of the disease. At present, no effective therapies are available for Leigh syndrome, and the mainstay of management is supportive care.