Mucolipidosis type II with evidence of a novel storage site

Virchows Arch. 1998 Dec;433(6):575-8. doi: 10.1007/s004280050292.


In a case of infantile mucolipidosis type II (I-cell disease), storage was identified at autopsy in serous-type secretory cells in exocrine pancreas, in the tracheal and sublingual salivary glands and in the chief (zymogenic) cells of the gastric oxyntic glands, suggesting a systemic involvement of this type of secretory cells. The content of specific secretory granules was inversely proportional to the intensity of the storage process. The mucus-producing cells were not affected. The serous glandular system is a novel storage site in I-cell disease. Review of archival material in three further cases confirmed the findings.

Publication types

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

MeSH terms

  • Biopsy
  • Fatal Outcome
  • Humans
  • Infant
  • Male
  • Microscopy, Electron
  • Mucolipidoses / pathology*
  • Pancreas / pathology
  • Stomach / pathology
  • Sublingual Gland / pathology