Few cases of infantile liver disease associated with mitochondrial DNA (mtDNA) depletion
have been reported. Most of the patients died before 1 year of age of severe liver failure. We
describe a new case, a 28-month-old child, presenting with cholestasis at age 2 months,
complicated by progressive portal and lobular liver fibrosis. Growth and psychomotor
development are undisturbed. There is no clinical evidence of either myopathy or
neurological involvement. Metabolic investigation in plasma revealed an abnormal oxido …