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  • Title: Cerebellar hemorrhage complicating isovaleric acidemia: a case report.
    Author: Fischer AQ, Challa VR, Burton BK, McLean WT.
    Journal: Neurology; 1981 Jun; 31(6):746-8. PubMed ID: 7195490.
    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 IVA 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 myelination has been described in different aminoacidopathies, the above findings have not been reported previously in IVA.
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