Cite this page: Weisenberg, E. Mucolipidosis. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/stomachmucolipidosis.html. Accessed October 17th, 2018.
Definition / general
- 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