Cerebellar hemorrhage complicating isovaleric acidemia

Abstract

Isovaleric acidemia (IVA) is an inborn error of leucine metabolism, resulting in an accumulation of isovaleric acid in the body fluids. The neuropathologic findings in an 11-day-old infant with JYA consisted of diffuse cerebral edema, massive cerebellar hemorrhage, upward transtentorial herniation, and focal degeneration of clusters of glial cells in white and gray matter. Although abnormal mye-lination has been described in different aminoacidopathies, the above findings have not been reported previously in IVA.