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A case of cerebellar hemorrhage complicating iso valeric acidemia


, : A case of cerebellar hemorrhage complicating iso valeric acidemia. Neurology 31(6): 746-748

Isovaleric acidemia (IVA) is an inborn error of leucine metabolism due to a genetic lack of isovaleryl-CoA dehydrogenase, resulting in an accumualtion of isovaleric acid in the body fluids. 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 was described in different aminoacidopathies, the above findings were not reported previously in IVA.

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