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IPLab:Lab 5:Gaucher Disease

889 bytes added, 20:46, 22 August 2013
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The third pattern, type III, is usually somewhat intermediate between types I and II. These patients are usually juveniles and have systemic involvement like in type I but they have progressive central nervous system disease that usually begins in the second or third decade of life.</spoiler>
* <spoiler text="What type of Gaucher disease did this patient likely have?">This was an adult who had pancytopenia and aseptic necrosis of bone. This is consistent with type I. In type I symptoms and signs first appear in adult life and are related to splenomegaly or to bone involvement by Gaucher cells. These patients have pancytopenia or thrombocytopenia secondary to hypersplenism and pathologic fractures and bone pain due to expansion of the marrow space by Gaucher cells.</spoiler>
 
== Additional Resources ==
=== Reference ===
* [http://emedicine.medscape.com/article/944157-overview eMedicine Medical Library: Gaucher Disease]
* [http://www.merckmanuals.com/professional/hematology_and_oncology/spleen_disorders/splenomegaly.html Merck Manual: Splenomegaly]
* [www.merckmanuals.com/professional/pediatrics/inherited_disorders_of_metabolism/lysosomal_storage_disorders.html Merck Manual: Lysosomal Storage Disorders]
 
=== Journal Articles ===
* Barone R, Pavone V, Nigro F, Chabàs A, Fiumara A. [http://www.ncbi.nlm.nih.gov/pubmed/10792292 Extraordinary bone involvement in a gaucher disease type I patient]. ''Br J Haematol'' 2000 Mar;108(4):838-41.
 
=== Images ===
* [http://peir.path.uab.edu/library/index.php?/tags/1670-gaucher_cell PEIR Digital Library: Gaucher Cell Images]
* [http://library.med.utah.edu/WebPath/HEMEHTML/HEMEIDX.html Webpath: Hematopathology]
{{IPLab 5}}
[[Category: IPLab:Lab 5]]
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