[Chronic cholestasis and progressive neuromyopathy. Diagnostic problems and therapeutic possibilities in a vitamin E deficiency disease (author's transl)].
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.
D000293:Adolescent; D002524:Cerebellar Ataxia / Q000175:diagnosis; D001651:Cholestasis, Extrahepatic / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007273:Injections, Intramuscular; D008111:Liver Function Tests; D009468:Neuromuscular Diseases / Q000175:diagnosis*; D012021:Reflex, Abnormal / Q000175:diagnosis; D014810:Vitamin E / Q000627:therapeutic use; D014811:Vitamin E Deficiency / Q000175:diagnosis*
D014810:Vitamin E
Chronische Cholestase und progressive neuromuskuläre Symptomatik. Diagnostische Probleme und therapeutische Möglichkeiten bei einer Vitamin E-Mangelerkrankung.