Frequency and clinical progression of the vitamin E deficiency neurologic disorder in children with prolonged neonatal cholestasis
R. J. Sokol, M. A. Guggenheim, J. E. Heubi, S. T. Iannaccone, N. Butler-Simon, V. Jackson, C. Miller, M. Cheney, W. F. Balistreri and A. Silverman
To determine the frequency of biochemical vitamin E deficiency and of the
clinical signs of the vitamin E deficiency neurologic syndrome in children
with prolonged neonatal cholestatic disorders, we studied 46 children (aged
1 month to 17.0 years) with chronic forms of intrahepatic neonatal
cholestasis and 47 children (aged 4 months to 8.0 years) with extrahepatic
biliary atresia. Based on serum vitamin E concentrations and the ratios of
serum vitamin E concentration to total serum lipid concentration, 64% of
the intrahepatic and 77% of the extrahepatic cholestasis groups were
vitamin E deficient. Prior to age 1 year, neurologic function was normal in
all children. Between ages 1 and 3 years, neurologic abnormalities were
present in approximately 50% of the vitamin E-deficient children; after age
3 years, neurologic abnormalities were present in all vitamin E-deficient
children. Areflexia was the first abnormality to develop between ages 1 and
4 years; truncal and limb ataxia, peripheral neuropathy, and
ophthalmoplegia developed between ages 3 and 6 years. Neurologic
dysfunction progressed to a disabling combination of findings by ages 8 to
10 years in the majority of vitamin E-deficient children. Neurologic
function was normal in the vitamin E-sufficient children. We conclude that
vitamin E status should be evaluated in infants in whom cholestasis is
diagnosed, and effective therapy should be initiated to prevent or treat
vitamin E deficiency at an early age.
