ABSTRACT
Nonclassic or late-onset forms of Krabbe galactosylceramide lipidosis have been recognized increasingly since the advent of enzymatic diagnosis. In classic Krabbe disease and its variants, neuroimaging usually indicates diffuse cerebral atrophy. The neuroanatomic pathology of Krabbe disease is characterized by an extreme hardness or sclerosis of the white matter. Prior to the availability of enzymatic assay, the diagnosis was often established antemortem, by biopsy of brain, which revealed diffuse loss of myelin, astrocytic gliosis and the hallmark finding of a massive infiltration with the multinucleated globoid cells in the white matter. The pathogenesis of disease in galactosylceramide lipidosis is not clear. It is an unusual lipid storage disease, in that the stored substrate accumulates only in globoid cells. Bone marrow transplantation has been performed in a few late-onset patients without clear evidence of efficacy, though stabilization of some late-onset patients appears to have been accomplished by hematopoietic stem cell transplantation.
