[Anomalies in fatty acids distribution and superoxide dismutase activity in lymphocytes of an adult with atypical ceroid lipofuscinosis]

Rev Neurol (Paris). 1983;139(4):269-76.
[Article in French]

Abstract

A 27-year-old Algerian patient presented a slowly progressive disease clinically characterized by a cerebellar syndrome, absence of deep reflexes, bilateral sign of Babinski, deep sensory disturbances, ophthalmologic disorders and pes cavus. The diagnosis of ceroid lipofuscinosis resulted from the presence of lipofuscin deposits evidenced as autofluorescent bodies, and a particular type of curvilinear, crystalloid ultrastructural inclusion bodies in muscle, lymphocytes and liver. Biochemical tests showed reduction in levels of linoleic and arachidonic acids, and of superoxide dismutase activity in lymphocytes. These findings suggest that the biochemical anomalies result from disturbances in polyunsaturated fatty acids metabolism. These results can be related to pathogenetic hypotheses for ceroid lipofuscinosis suggesting a predominant role for peroxidation of fatty acids.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Adult
  • Fatty Acids / blood*
  • Fatty Acids / metabolism
  • Humans
  • Inclusion Bodies / ultrastructure
  • Liver / ultrastructure
  • Lymphocytes / metabolism*
  • Male
  • Muscles / pathology
  • Neuronal Ceroid-Lipofuscinoses / blood*
  • Neuronal Ceroid-Lipofuscinoses / pathology
  • Oxidation-Reduction
  • Superoxide Dismutase / blood*

Substances

  • Fatty Acids
  • Superoxide Dismutase