Other nonneoplastic lesions

Author: Elliot Weisenberg, M.D. (see Authors page)

Revised: 2 November 2018, last major update July 2012

Copyright: (c) 2003-2018,, Inc.

PubMed Search: Mucolipidosis[TI] free full text[sb]

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Cite this page: Weisenberg, E. Mucolipidosis. website. Accessed January 23rd, 2019.
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
Microscopic (histologic) images

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Constitutive achlorhydria in mucolipidosis type‚ÄČIV