IPLab:Lab 5:Gaucher Disease - Revision history

Peter Anderson: /* Autopsy Findings */

2020-07-08T19:52:04Z

‎Autopsy Findings

2020-07-08T19:51:57Z

‎Clinical Summary

2014-01-03T16:15:10Z

2013-08-30T01:33:19Z

‎Images

2013-08-25T15:51:01Z

2013-08-22T20:46:40Z

‎Reference

2013-08-22T20:46:28Z

2013-08-22T20:46:21Z

2013-08-21T15:13:39Z

2013-08-21T14:18:52Z

← Older revision		Revision as of 19:52, 8 July 2020
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	Despite appropriate therapy the anemia and thrombocytopenia persisted as well as the severe splenomegaly. A splenectomy was performed. The surface of the spleen was pale and roughly granular. The cut surface revealed the same pale appearance.		Despite appropriate therapy the anemia and thrombocytopenia persisted as well as the severe splenomegaly. A splenectomy was performed. The surface of the spleen was pale and roughly granular. The cut surface revealed the same pale appearance.
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−	~~== Autopsy Findings ==~~
−	~~The surgical specimen was a 935 gram spleen. Its surface was pale with an area of bluish discoloration. The cut surface revealed the same pale appearance.~~

	== Images ==		== Images ==

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 == Clinical Summary ==
-This 23-year-old black female delivered a stillborn infant by Caesarean section, following which she experienced excessive uterine bleeding including the passage of blood clots. Further study revealed an enlarged spleen and thrombocytopenia (platelet count 58,000). A splenectomy was performed with an uneventful postoperative course other than persistent pain in her right leg (the right hip had been fractured 2 years earlier). Subsequently she developed aseptic necrosis of the left femoral head requiring a prosthetic replacement. Microscopic evaluation of the bone removed at the time of surgery revealed Gaucher cells in the marrow space.
+This 23-year-old female went to her doctor because of chronic fatigue, bone pain, and easy bruising and frequent nose bleeds.  Physical exam demonstrated hepatomegaly and splenomegaly and lab results demonstrated anemia and thrombocytopenia.  Biopsy and further workup led to a diagnosis of Gaucher disease.
 == Autopsy Findings ==

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 File:IPLab5Gaucher8.jpg|This is a higher-power photomicrograph of the spleen from this case. At this higher power individual cells can be better appreciated and the fibrillar nature of the eosinophilic cytoplasmic material can be seen.
 </gallery>
 == Study Questions ==

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 === Images ===
-* [http://peir.path.uab.edu/library/index.php?/tags/1670-gaucher_cell PEIR Digital Library: Gaucher Cell Images]
+* [{{SERVER}}/library/index.php?/tags/1670-gaucher_cell PEIR Digital Library: Gaucher Cell Images]
 * [http://library.med.utah.edu/WebPath/HEMEHTML/HEMEIDX.html Webpath: Hematopathology]

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 == Autopsy Findings ==
-The surgical specimen was a 935-gram spleen. Its surface was pale with an area of bluish discoloration. The cut surface revealed the same pale appearance.
+The surgical specimen was a 935 gram spleen. Its surface was pale with an area of bluish discoloration. The cut surface revealed the same pale appearance.
 == Images ==

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 * [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]
+* [http://www.merckmanuals.com/professional/pediatrics/inherited_disorders_of_metabolism/lysosomal_storage_disorders.html Merck Manual: Lysosomal Storage Disorders]
 === Journal Articles ===

← Older revision		Revision as of 20:46, 22 August 2013
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−	== Clinical Summary ===	+	== Clinical Summary ==
	This 23-year-old black female delivered a stillborn infant by Caesarean section, following which she experienced excessive uterine bleeding including the passage of blood clots. Further study revealed an enlarged spleen and thrombocytopenia (platelet count 58,000). A splenectomy was performed with an uneventful postoperative course other than persistent pain in her right leg (the right hip had been fractured 2 years earlier). Subsequently she developed aseptic necrosis of the left femoral head requiring a prosthetic replacement. Microscopic evaluation of the bone removed at the time of surgery revealed Gaucher cells in the marrow space.		This 23-year-old black female delivered a stillborn infant by Caesarean section, following which she experienced excessive uterine bleeding including the passage of blood clots. Further study revealed an enlarged spleen and thrombocytopenia (platelet count 58,000). A splenectomy was performed with an uneventful postoperative course other than persistent pain in her right leg (the right hip had been fractured 2 years earlier). Subsequently she developed aseptic necrosis of the left femoral head requiring a prosthetic replacement. Microscopic evaluation of the bone removed at the time of surgery revealed Gaucher cells in the marrow space.

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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>
 {{IPLab 5}}
 [[Category: IPLab:Lab 5]]

← Older revision		Revision as of 14:18, 21 August 2013
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		+	== Clinical Summary ===
		+	This 23-year-old black female delivered a stillborn infant by Caesarean section, following which she experienced excessive uterine bleeding including the passage of blood clots. Further study revealed an enlarged spleen and thrombocytopenia (platelet count 58,000). A splenectomy was performed with an uneventful postoperative course other than persistent pain in her right leg (the right hip had been fractured 2 years earlier). Subsequently she developed aseptic necrosis of the left femoral head requiring a prosthetic replacement. Microscopic evaluation of the bone removed at the time of surgery revealed Gaucher cells in the marrow space.
		+
		+	== Autopsy Findings ==
		+	The surgical specimen was a 935-gram spleen. Its surface was pale with an area of bluish discoloration. The cut surface revealed the same pale appearance.
		+
	== Images ==		== Images ==
	<gallery heights="250px" widths="250px">		<gallery heights="250px" widths="250px">