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Mucolipidosis type II with evidence of a novel storage site

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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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Received: 24 March 1998 / Accepted: 1 June 1998

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Elleder, M., Martin, J. Mucolipidosis type II with evidence of a novel storage site. Virchows Archiv 433, 575–578 (1998). https://doi.org/10.1007/s004280050292

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  • Key words Mucolipidosis II
  • I-cell disease
  • Lysosomal storage
  • Serous secretory cells