Leukoencephalopathy associated with a disturbance in the metabolism of polyols

In vivo proton magnetic resonance spectroscopy of the brain demonstrated hi ghly elevated levels of arabitol and ribitol in a 14-year-old boy with a wh ite matter disorder and neuropathy of unknown origin. These polyols also we re shown to be elevated in body fluids, suggesting an inborn error in polyo l metabolism. The strong plasma/cerebrospinal fluid/brain gradient, with co ncentrations increasing in that order, suggests a primary neurometabolic di sorder. Thus far, a basic enzyme defect has not been identified.