Mitochondrial Leukoencephalopathy in a One and Half-Year-old Boy

Abstract A one and half-year-old baby boy presented with subacute regression of milestones in all domains. On examination, he had spastic dystonic quadriparesis. Reflexes were brisk. Magnetic resonance imaging of the brain showed diffuse cavitating leukodystrophy involving bilateral periventricular white matter, centrum semiovale, and corona radiata. Magnetic resonance spectroscopy revealed a lactate peak and serum lactate levels were also elevated. Genetic studies revealed compound heterozygous autosomal recessive mutations in IBA57 gene. This case illustrates a rare mitochondrial encephalopathy called multiple mitochondrial dysfunction syndrome-3 caused by a novel IBA57 gene mutation.