Hemiparesis, homonymous hemianopia and intellectual impairment are common features of the Sturge-Weber syndrome. While cerebrovascular thromboses have been noted with the syndrome, the pattern of recurrent thrombotic episodes producing an apparently gradual loss of function is not widely appreciated. The most important implication of this concept is the possibility of developing new methods of treatment, such as antiplatelet agents.
Oculodental digital dysplasia (ODDD) is an uncommon inherited disorder with characteristic facial abnormalities, defects in dentition and syndactyly; previous reports have described neurologic dysfunction. We present neuroimaging features of a mother and daughter with ODDD; despite only the mother having neurologic dysfunction, the MRI findings in both are strikingly similar.
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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