PROGRESSIVE NEURONAL DEGENERATION OF CHILDHOOD WITH LIVER-DISEASE (ALPERS-DISEASE) PRESENTING IN YOUNG-ADULTS

Two unrelated and previously healthy girls, aged 17 and 18, presented with a subacute encephalopathy, visual and sensory symptoms and signs, and prominent seizures that were difficult to control. Brain MRI show ed lesions (high signal on T2 weighted images) in the occipital lobes and thalamus; EEG showed slow wave activity with superimposed polyspik es. Inexorable downhill progression led to death in hepatic failure wi thin eight months of onset. Histopathological findings in both patient s ((a) chronic hepatitis with prominent bile duct proliferation, fatty change, and fibrosis; (b) in the brain a patchy destruction of the ce rebral cortex, predominantly involving striate cortex) were characteri stic of progressive neuronal degeneration of childhood with liver dise ase-Alpers-Huttenlocher syndrome-a rare autosomal recessive disorder u sually seen in infants and young children.