Acute or subacute cranial computed tomography findings in patients with congenital lactic acidemia

Two patients with congenital lactic acidemia of unknown etiology developed striking and extensive cranial computed tomography abnormalities of acute or subacute onset. In addition to Leigh syndrome and MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes), other lactic acidemia disorders may produce evolving cerebral radiographic abnormalities. An aggressive effort should be made in such patients to obtain a specific diagnosis through biochemical and molecular genetic studies.