Mucolipidosis type II with evidence of a novel storage site.
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.
Elleder
M
M
Institute of Inherited Metabolic Disorders, 1st Faculty of Medicine and University Hospital, Charles University, Prague, Czech Republic.
Martin
J J
JJ
D001706:Biopsy; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D008297:Male; D008854:Microscopy, Electron; D009081:Mucolipidoses / Q000473:pathology*; D010179:Pancreas / Q000473:pathology; D013270:Stomach / Q000473:pathology; D013361:Sublingual Gland / Q000473:pathology