Leigh disease

info · Genetic · ICD-10: G31.82

A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity.

Signs and symptoms

Global developmental delay
Gliosis
Strabismus
Dystonia
Seizure
Hypotonia
Ataxia
Pigmentary retinopathy
Generalized hypotonia
Focal substantia nigra T2 hyperintensity

Also known as: Infantile necrotizing encephalomyelopathy; Leigh syndrome; juvenile subacute necrotizing encephalomyelopathy