Vitamin E malabsorption and deficiency during chronic childhood cholestasis has 
been associated with a progressive ataxic neurologic syndrome. Hyporeflexia, the 
first sign of neurologic dysfunction, may begin prior to age 2 years, but severe 
symptoms do not develop until age 5 to 10 years. To establish the age of onset 
of neuropathologic lesions, we prospectively evaluated four young children with 
severe cholestasis. Malabsorption and deficiency of vitamin E were documented by 
low serum vitamin E concentrations, low serum vitamin E to total serum lipids 
ratios, elevated hydrogen peroxide hemolysis, and impaired absorption of a 
pharmacologic dose of alpha-tocopherol. Abnormal neurologic findings in two 
patients were limited to areflexia, ptosis, mild truncal ataxia, and hypotonia; 
two patients had minimal signs of neurologic dysfunction. Sural nerve histology 
at age 6 to 25 months revealed a degenerative axonopathy involving large-caliber 
myelinated fibers, but without quantitative axonal loss. Muscle histology and 
histochemistry tests yielded normal results. Our study suggests that neurologic 
injury may occur during the first two years of life in vitamin E-deficient 
children with cholestatic hepatobiliary disease, obligating aggressive attempts 
at correcting this deficiency state at a very young age.