Leigh disease

(Archibald Denis Leigh, 20th century, British neuropathologist), (also called subacute necrotizing encephalomyelopathy), mitochondrial disease associated with several enzyme deficiencies, in particular cytochrome c oxidase and pyruvate dehydrogenase complex, that affects infancy and childhood. The disease usually starts before the age of one year; juvenile and adult-onset forms have also been described. Neurological manifestations include irregular respiration and apnoeic episodes in neonatal onset, nystagmus, bizarre eye movements, hypotonia, lethargy, seizures, deafness, mental retardation and extrapyramidal signs associated with renal tubular dysfunction and cardiomyopathy.

Since the disease mainly involves the basal ganglia, the most common neuroradiological findings are hypodense areas in the caudate nuclei and putamina at CT, without enhancement and T2 hyperintensities in the same location at MR examination. The lesions are usually symmetrical; the periventricular white matter may be involved in the late phases of the disease.

GS