Mucolipidosis type II with evidence of a novel storage site

M Elleder, JJ Martin - Virchows Archiv, 1998 - Springer
M Elleder, JJ Martin
Virchows Archiv, 1998Springer
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 …
Abstract
 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.
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