A progressive neurologic syndrome in children with chronic liver disease

N Engl J Med. 1981 Feb 26;304(9):503-8. doi: 10.1056/NEJM198102263040902.


A progressive neurologic syndrome developed in six children with longstanding cholestatic liver disease. The neurologic abnormalities included areflexia, gait disturbance, decreased proprioceptive and vibratory sensation, and paresis of gaze. Serum vitamin E concentrations were uniformly low. Neuropathological studies carried out in two of the three fatal cases revealed degeneration of the posterior column, selective loss of large-caliber, myelinated axons in peripheral nerve, and spheroids in the gracile and cuneate nuclei. These lesions are similar to those found in animals with experimentally induced vitamin E deficiency. We therefore speculate that the neurologic syndrome in these children may be the result of chronic vitamin E malabsorption.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Child
  • Cholestasis / complications*
  • Cholestasis, Intrahepatic / complications*
  • Eye Movements
  • Gait
  • Humans
  • Nervous System Diseases / etiology*
  • Nervous System Diseases / pathology
  • Peripheral Nerves / pathology
  • Proprioception
  • Reflex, Stretch
  • Sensation
  • Spinal Cord / pathology
  • Syndrome
  • Vibration
  • Vitamin E Deficiency / complications*
  • Vitamin E Deficiency / pathology