| A rare mitochondrial DNA depletion syndrome with characteristics of neonatal or infantile onset of global developmental delay, hypotonia, failure to thrive, progressive neurologic decline, sensorineural deafness and movement disorder. Seizures, external ophthalmoplegia, polyneuropathy, cardiomyopathy, and renal tubular dysfunction have also been reported. Brain imaging may show T2-weighted hyperintensities in the basal ganglia and laboratory examination may reveal lactic acidosis and mild methylmalonic aciduria. |
