IPLab:Lab 5:Gaucher Disease - Revision history

Peter Anderson: /* Autopsy Findings */

2020-07-08T19:52:04Z

Autopsy Findings

← Older revision		Revision as of 14:52, 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.

	~~== 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 ==

Peter Anderson: /* Clinical Summary */

2020-07-08T19:51:57Z

Clinical Summary

← Older revision		Revision as of 14:51, 8 July 2020
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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 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.

			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.

	== Autopsy Findings ==		== Autopsy Findings ==

Seung Park at 16:15, 3 January 2014

2014-01-03T16:15:10Z

← Older revision		Revision as of 11:15, 3 January 2014
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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.		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>		</gallery>

			== Virtual Microscopy ==
			<peir-vm>IPLab5Gaucher</peir-vm>

	== Study Questions ==		== Study Questions ==

Seung Park: /* Images */

2013-08-30T01:33:19Z

Images

← Older revision		Revision as of 20:33, 29 August 2013
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	=== Images ===		=== 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]		* [http://library.med.utah.edu/WebPath/HEMEHTML/HEMEIDX.html Webpath: Hematopathology]

Peter Anderson at 15:51, 25 August 2013

2013-08-25T15:51:01Z

← Older revision		Revision as of 10:51, 25 August 2013
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	== Autopsy Findings ==		== 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 ==		== Images ==

Seung Park: /* Reference */

2013-08-22T20:46:40Z

Reference

← Older revision		Revision as of 15:46, 22 August 2013
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	* [http://emedicine.medscape.com/article/944157-overview eMedicine Medical Library: Gaucher Disease]		* [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]		* [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 ===		=== Journal Articles ===

Seung Park at 20:46, 22 August 2013

2013-08-22T20:46:28Z

← Older revision		Revision as of 15:46, 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.

Seung Park at 20:46, 22 August 2013

2013-08-22T20:46:21Z

← Older revision		Revision as of 15:46, 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>		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>		* <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}}		{{IPLab 5}}

	[[Category: IPLab:Lab 5]]		[[Category: IPLab:Lab 5]]

Seung Park at 15:13, 21 August 2013

2013-08-21T15:13:39Z

← Older revision		Revision as of 10:13, 21 August 2013
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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.		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>		</gallery>

			== Study Questions ==
			* <spoiler text="What is the inheritance pattern of the various forms of Gaucher disease and what gene is involved?">Gaucher disease has an autosomal recessive inheritance pattern. There is a mutation of the glucocerebrosidase gene on chromosome 1q21.</spoiler>
			* <spoiler text="What are the 3 clinical presentations that have been described for Gaucher disease?">Type I makes up 99% of the reported cases of Gaucher disease. This is termed the chronic non-neuronopathic form of Gaucher disease. In type I the build up of glucocerebrosides is only observed in phagocytic cells throughout the body, especially in the spleen, liver, and skeletal muscles. There is no brain involvement. Type I is seen primarily in Jews of European decent. Patients with this form of Gaucher disease have reduced but detectable levels of glucocerebrosidase activity. Life span is slightly shortened in these patients.

			Type II is termed the infantile acute neuronopathic form of Gaucher disease. Though hepatosplenomegaly is also seen in this form of Gaucher disease, there is a progressive central nervous system involvement leading to death at an early age. There is no detectable glucocerebrosidase activity in the tissues and there is no predilection for Jews.

			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}}		{{IPLab 5}}

	[[Category: IPLab:Lab 5]]		[[Category: IPLab:Lab 5]]

Seung Park at 14:18, 21 August 2013

2013-08-21T14:18:52Z

← Older revision		Revision as of 09:18, 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">