[Chronic cholestasis and progressive neuromyopathy. Diagnostic problems and therapeutic possibilities in a vitamin E deficiency disease (author's transl)].

Abstract

A 15-year-old female developed a slowly progressive gait disturbance starting from the age of two. She was suffering from congenital choleostatic jaundice. Neurological examination revealed cerebellar ataxia, hyporeflexia and hyposensitivity. The initial vitamin E level in serum was extremely low with 0.4 mcg/ml (normal 5-20 mcg/ml). Muscle biopsy changes were similar to those in experimental vitamin E deficient animals. Pathological data of children with longstanding choleostatic jaundice showed degeneration of the posterior column and selective loss of large-caliber, myelinated axons in peripheral nerves. Similar to one other report in the literature the only effective treatment was the intramuscular injection of 50-100 mg Vitamin E twice a week which normalized the serum levels, stopped the progression of the disease and showed improvement of some neurological functions after half a year. A very early treatment seems to be important to keep these children walking.