Vacuolated lymphocytes in type II glycogenosis--a diagnostic approach?

Eur J Pediatr. 1977 Dec 30;127(1):1-7. doi: 10.1007/BF00465559.

Abstract

Using electron microscopy, glycogen-filled lysosomes were found in peripheral lymphocytes in 5 cases of the infantile form of glycogenosis type II. In two infants whose blood smears were available, the ultrastructural demonstration of this pathognomonic storage corresponded to well-delineated vacuoles detected by routine light microscopy. Detection of such vacuoles in peripheral lymphocytes by light microscopy and demonstration of glycogen-filled lysosomes by electron microscopy could be a simple and harmless tool for diagnosing the classical form of type II glycogenosis.

MeSH terms

  • Female
  • Glycogen
  • Glycogen Storage Disease / pathology*
  • Glycogen Storage Disease Type II / blood
  • Glycogen Storage Disease Type II / diagnosis
  • Glycogen Storage Disease Type II / pathology*
  • Humans
  • Infant
  • Lymphocytes / pathology*
  • Lysosomes
  • Male
  • Microscopy, Electron
  • Organoids*
  • Vacuoles*

Substances

  • Glycogen