Cerebellar Hemorrhage Complicating Methylmalonic and Propionic Acidemia

Abstract

Methylmalonic (MMA) and propionic (PPA) acidemias are inherited disorders characterized by a wide spectrum of clinical and biochemical findings. We report the neuropathologic findings in two young infants with MMA and PPA in which death probably resulted from cerebellar hemorrhage. When combined with a previous report of isovaleric acidemia complicated by diffuse subarachnoid and parenchymal cerebellar hemorrhage, it is apparent that cerebellar hemorrhage must be considered in any infant with a fulminating organic acidemia. Rapid neurologic deterioration despite an improvement in acidosis and hyperammonemia is an indication for computed tomography of brain. Surgical evacuation of the blood may improve the chance for survival in this catastrophic illness.