From Libre Pathology
|Diagnosis in short|
Gaucher disease. H&E stain.
|LM||crumpled tissue paper macrophages|
|Subtypes||type I, type II, type III|
|Associated Dx||fracture of bone|
|Prognosis||dependent on subtype|
Like most storage disorders, it is inherited autosomal recessive; thus, it is seen more commonly in families where people marry their cousins.
- Accumulation of glucocerebroside in monocytes/macrophages due to deficiency of glucocerebrosidase.
- Defect in acid beta-glucosidase gene (GBA gene).
- There are several types - all are autosomal recessive.
- Type I: 99% of cases; no CNS involvement - survive to adulthood.
- Type II: infantile onset - CNS degeneration + death at young age.
- Type III: mixed of type I & type II.
- Pancytopenia - due to marrow replacement.
- Hepatosplenomegaly (type I).
- Mononuclear phagocytes with abundant eosinophilic cytoplasm with subtle irregular lines (~0.5 micrometers in width).
- Known as "crumpled tissue paper cells" / "crumpled tissue paper cytoplasm."
- Crumpled tissue paper: crumpled tissue paper - image (123rf.com).
- The textbook case may look crumpled... along with some mind altering drugs.
- The typical case is:
- Abundant macrophages with cytoplasm filled by very small (clear) vacuoles (~0.2-0.4 micrometres).
- The typical case is:
- Gaucher disease - bone marrow aspirate (swmed.edu).
- Gaucher disease (webpathology.com).
- Gaucher disease (neuropathologyweb.org).
- Material in "crumpled tissue paper cells": PAS +ve.
- Chen, M.; Wang, J. (May 2008). "Gaucher disease: review of the literature.". Arch Pathol Lab Med 132 (5): 851-3. doi:10.1043/1543-2165(2008)132[851:GDROTL]2.0.CO;2. PMID 18466035.
- URL: http://emedicine.medscape.com/article/944157-overview. Accessed on: 3 December 2010.
- Online 'Mendelian Inheritance in Man' (OMIM) 230800
- Online 'Mendelian Inheritance in Man' (OMIM) 230900
- Online 'Mendelian Inheritance in Man' (OMIM) 231000
- Mitchell, Richard; Kumar, Vinay; Fausto, Nelson; Abbas, Abul K.; Aster, Jon (2011). Pocket Companion to Robbins & Cotran Pathologic Basis of Disease (8th ed.). Elsevier Saunders. pp. 95. ISBN 978-1416054542.
- URL: http://www.webpathology.com/image.asp?case=377&n=3. Accessed on: 30 November 2010.
- URL: http://pathcuric1.swmed.edu/pathdemo/gen1/gen130.htm. Accessed on: 28 May 2011.
- URL: http://www.neuropathologyweb.org/chapter10/chapter10bLSDs.html. Accessed on: 30 November 2010.