Reviewers: Elliot Weisenberg, M.D. (see Reviewers page)
Revised: 28 July 2012, last major update July 2012
Copyright: (c) 2003-2012, PathologyOutlines.com, Inc.
● Mucolipidosis type IV: autosomal recessive lysosomal storage disease caused by mutations in MCOLN1 that encodes for mucolipin1 (Mol Genet Metab 2011;104:206)
● Approximately 70% of patients are Ashkenazi Jews
● Patients present with cerebral palsy-like encephalopathy and severe neurologic abnormalities
● In brain, have accumulation of lamellated membrane structures in lysosomes and pigmented cytoplasmic granules in neurons; similar changes found in other cells
● In stomach, associated with hypergastrinemia, achlorhydria, chronic atrophic gastritis, enterochromaffin-like cell hyperplasia; parietal cells have striking cytoplasmic vacuolization due to large lysosomes containing lamellar, concentric, and cystic membranous inclusions (Am J Surg Pathol 1999;23:1527)
End of Stomach > Non-neoplastic anomalies > Mucolipidosis
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