Krabbe's Disease

Krabbe's disease is a lysosomal storage disorder caused by deficient activity of galactosylceramidase, and characterized pathologically by the presence of globoid cells, destruction of white matter, and peripheral neuropathy. There is a marked accumulation of psychosine, which can reproduce the pathological phenotype when injected into experimental animals. The classic form of the disease presents in infancy, and rapidly progresses to death in early childhood. Later onset forms have been described, some of which may have a similarly acute course. More often, the phenotype mimics a slowly progressive spinocerebellar degeneration. Stem cell transplantation appears to prolong survival when initiated in the first few weeks of life for children with classic, early infantile disease, but the long-term outcome remains uncertain.