Neuromyopathy and vitamin E deficiency in man

Neuropediatrics. 1981 Aug;12(3):267-78. doi: 10.1055/s-2008-1059657.


A 12-year-old boy, born of a consanguineous marriage, had ataxia, sensory neuropathy, generalized muscle hypotrophy and a lower serum vitamin E level. Two of his relatives had died of a clinically similar disorder in their late adolescence. Morphologically, his striated muscle fibers and Schwann cells of his sural nerve contained numerous autofluorescent acid phosphatase-positive lipopigments which, by electron microscopy, consisted of a finely granular matrix surrounded by a trilaminar membrane. These lysosomal lipopigments were similar to those observed in muscle fibers of a patient afflicted with abeta-lipoproteinemia. They probably represent the morphological sequelae of long-standing vitamin E deficiency in this child, the extract origin of which has not been fully elucidated.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Hereditary Sensory and Autonomic Neuropathies / complications*
  • Hereditary Sensory and Autonomic Neuropathies / pathology
  • Humans
  • Leg / innervation
  • Male
  • Muscles / pathology
  • Muscles / ultrastructure
  • Sural Nerve / pathology
  • Sural Nerve / ultrastructure
  • Thigh / innervation
  • Vitamin E Deficiency / complications*
  • Vitamin E Deficiency / pathology