Electron microscopic observation of tonsillar tissue as a diagnostic aid in early juvenile neuronal ceroid-lipofuscinosis

Brain Dev. 1987;9(6):593-6. doi: 10.1016/s0387-7604(87)80091-8.

Abstract

An electron microscopic observation in a tonsil of a patient with early juvenile neuronal ceroid-lipofuscinosis (NCL) demonstrated characteristic lipopigments in lymphocytes, i.e., fingerprint profiles (FPP) and granular matrixes. While numerous FPP, curvilinear profiles (CLP) and granular matrixes were found in reticulo-endothelial and plasma cells, tonsillar lymphocytes contained only FPP and granular matrixes as seen in circulating lymphocytes. These findings suggest that a tonsil biopsy, an easy and simple technique, may provide more reliable information than a skin biopsy not only for the diagnosis of but also for differentiating the clinical forms of childhood NCL.

MeSH terms

  • Child
  • Diagnosis, Differential
  • Humans
  • Lipofuscin / analysis
  • Lymphocytes / ultrastructure
  • Male
  • Microscopy, Electron
  • Neuronal Ceroid-Lipofuscinoses / diagnosis*
  • Neuronal Ceroid-Lipofuscinoses / pathology
  • Palatine Tonsil / ultrastructure*

Substances

  • Lipofuscin