Progressive neuromuscular disease in children with chronic cholestasis and vitamin E deficiency: diagnosis and treatment with alpha tocopherol.

We have studied four children (ages 6 to 17 years) with chronic cholestasis who developed a slowly progressive neuromuscular disease characterized by ataxia, dysmetria, areflexia, loss of vibratory sensation, and a variable ophthalmoplegia. Serum vitamin E concentration were low in all patients prior to treatment. Muscle histochemical studies in all four patients showed autofluorescent basophilic esterase and acid phosphatase-positive cytoplasmic inclusions and occasional necrotic fibers. These distinctive muscle changes are similar to those described in vitamin E-deficient animals. Intramuscular injections of alpha tocopherol were required in three patients to achieve normal serum vitamin E values. High-dose oral supplementation was effective in one patient. After normalization of serum vitamin E concentrations for six to 14 months, the neurologic disease has improved in all four patients.