December 1985

Frequency and Clinical Progression of the Vitamin E Deficiency Neurologic Disorder in Children With Prolonged Neonatal Cholestasis

Author Affiliations

From the Sections of Pediatric Gastroenterology and Nutrition, and the General Clinical Research Center, Departments of Pediatrics (Drs Sokol, Guggenheim, and Silverman and Mss Butler-Simon and Jackson), Neurology (Drs Guggenheim and Miller), and Surgery (Dr Cheney), University of Colorado School of Medicine, Denver, and the Divisions of Gastroenterology and Nutrition (Drs Sokol, Heubi, and Balistreri) and Neurology (Dr Iannaccone), Department of Pediatrics, Children's Hospital Research Foundation, Cincinnati.

Am J Dis Child. 1985;139(12):1211-1215. doi:10.1001/archpedi.1985.02140140045024

• 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.

(AJDC 1985;139:1211-1215)