Association of spinocerebellar disorders with cystic fibrosis or chronic childhood cholestasis and very low serum vitamin E

Abstract

Neurological syndromes similar to those associated with abetalipoproteinaemia or Friedreich's ataxia developed in four patients with chronic steatorrhoea, two of whom had cystic fibrosis and two chronic cirrhosis of childhood. Serum concentrations of vitamin E were virtually undetectable in all four patients. Substantial clinical improvement occurred in one patient after restoration of normal vitamin E levels by parenteral therapy. The findings suggest that spinocerebellar degeneration may be secondary to severe and prolonged vitamin E deficiency.