Disappearance of skin lipofuscin storage and marked clinical improvement in adult onset coeliac disease and severe vitamin E deficiency after chronic vitamin E megatherapy

J Submicrosc Cytol Pathol. 1996 Jul;28(3):339-44.

Abstract

A case of adult onset coeliac disease with IgA and severe vitamin E deficiencies, associated with cerebellar impairment and peripheral neuropathy, is described. Nerve conduction velocities, BAERs and SEP were altered. Brain nMR showed cortical atrophy mainly in the frontal and parietal regions. At ultrastructural examination, nerve biopsy showed a severe nerve fiber loss with presence of lipofuscin. Lipofuscin has been also found in skin and muscle biopsy. Duodenal biopsy showed villar atrophy with criptae hypoplasia. IgA, Apo A1 lipoprotein and cholesterol were decreased. Serum level of vitamin E was not detectable and its amount did not increase after an oral loading (2 g bolus). Parenteral vitamin E administration (900 mg/day) was able to normalize the plasma values only after 6 months of chronic administration of the drug in coincidence with a significant improvement of clinical and neurophysiological signs, and disappearance of lipofuscin storage in the skin biopsy.

Publication types

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

MeSH terms

  • Brain Diseases, Metabolic / drug therapy
  • Brain Diseases, Metabolic / etiology
  • Brain Diseases, Metabolic / pathology
  • Celiac Disease / complications
  • Celiac Disease / drug therapy*
  • Celiac Disease / pathology
  • Cerebellar Ataxia / drug therapy
  • Cerebellar Ataxia / etiology
  • Cerebellar Ataxia / pathology
  • Humans
  • Lipofuscin / metabolism*
  • Male
  • Middle Aged
  • Nervous System Diseases / drug therapy
  • Nervous System Diseases / etiology
  • Nervous System Diseases / pathology
  • Neuromuscular Diseases / drug therapy
  • Neuromuscular Diseases / etiology
  • Neuromuscular Diseases / pathology
  • Skin / chemistry*
  • Vitamin E / therapeutic use*
  • Vitamin E Deficiency / drug therapy*
  • Vitamin E Deficiency / etiology
  • Vitamin E Deficiency / pathology

Substances

  • Lipofuscin
  • Vitamin E