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  #1  
Old 05-29-2011
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Microscope Can you diagnose this picture #3?

Based on the next picture, what else do you expect to find in this patient?

Can you diagnose this picture #3?-screen-shot-2011-05-29-2.11.07-pm.png
click image to enlarge

A) Hypoglycemia
B) Hepatoesplenomegaly
C) Thrombocytosis
D) Cherry red spots in macula
E) Severe mental retardation
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  #2  
Old 05-29-2011
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hepatosplenomegaly!? atypicallymphocytes?IM?
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  #3  
Old 05-29-2011
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Gauchers disease?
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  #4  
Old 05-29-2011
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Correct Answer Gaucher's Disease

Hepatosplenomegaly?
It some how has the crumpled tissue paper appearance of the macrophages
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  #5  
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auer bodies - aml
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Quote:
Originally Posted by nevillenic View Post
Hepatosplenomegaly?
It some how has the crumpled tissue paper appearance of the macrophages
Exactly, Gaugher Dx. =) at first i though it was Multiple Myeloma but then i look at the answers and go for gaucher dx.

Good picture!.
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Quote:
Originally Posted by dr-mak View Post
auer bodies - aml
I think you´re answer the #1 case here
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Bbbbbbbbbbbbbbbbb
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hypoglycemia, i have no clue! lol
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Default Is it Gaucher disease??

It could be Hepatosplenomegaly.
If Gaucher disease is the correct answer, i must say that this is the best pic of it i ever saw. so much clear ''crumpled paper inclusions''. great job again bebix.
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Correct Answer correct answer.

B) Hepatoesplenomegaly

Can you diagnose this picture #3?-screen-shot-2011-05-29-7.47.43-pm.png

Gaucher's disease indeed!

Histopathologically, glycolipid-laden macrophages containing “crinkled paper” cytoplasm are seen, these macrophages are known as “Gaucher cells
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answer is B
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If it is in fact Gaucher's, then Mental Retardation is also an answer...
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Quote:
Originally Posted by patelMD View Post
If it is in fact Gaucher's, then Mental Retardation is also an answer...
Well, I added severe mental retardation as an alternative, but is not something that you really expect to see. Only Gaucher type II has it, which is amongst the rare Gaucher disease type (and is not severe) and some type III. Type I accounts for about 90 percent of cases.
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Quote:
Originally Posted by bebix View Post
Well, I added severe mental retardation as an alternative, but is not something that you really expect to see. Only Gaucher type II has it, which is amongst the rare Gaucher disease type (and is not severe) and some type III. Type I accounts for about 90 percent of cases.
I'd say MR is a severe complication , but fair enough its not common.
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i knew it was crumbled paper appearance bt i mixed it with nieman pick....
is there a gd n easy pneumonic to memorize the 2 lysosomal diseases?i mix them always....
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Quote:
Originally Posted by sana akbar View Post
i knew it was crumbled paper appearance bt i mixed it with nieman pick....
is there a gd n easy pneumonic to memorize the 2 lysosomal diseases?i mix them always....
Nieminn Pick

"Nieminn Picks his nose with Spingomyelin"
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Default Gaucher's vs. Niemann's

Gaucher's Disease and Niemann Pick's both have hepatosplenomegaly but only Niemann Pick's has the Cherry Red Spot on the macula.

Gaucher's have crumpled tissue paper macrophages (accumulation of Glucocerbroside)



Niemann Picks have foamy cells (accumulation of sphingomyelin)



Hope this helps.
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  #19  
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Quote:
Originally Posted by bebix View Post
B) Hepatoesplenomegaly

Attachment 1354

Gaucher's disease indeed!

Histopathologically, glycolipid-laden macrophages containing “crinkled paper” cytoplasm are seen, these macrophages are known as “Gaucher cells
awsome pic bebix
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i wanted pneumonic to memorize their "clinical features.."..even i can find a pneumonic for ths in 1st aid....
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  #21  
Old 02-19-2014
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Search sphingolipid deficiencies

Gaucher disease inclusion body Glucocerebroside and Glucocerebrosidase enzyme missing?

Attachment 1350
click image to enlarge

A) Hypoglycemia
B) Hepatoesplenomegaly
C) Thrombocytosis
D) Cherry red spots in macula
E) Severe mental retardation[/QUOTE]
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  #22  
Old 02-19-2014
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Default Lipid Catabolism

Which enzyme is most strongly associated with cataracts formation?

a.-Galactokinase
b.-Aldose reductase
c.-Galactose 1-P uridyl transferase
d.-Aldolase B
e.-Glucokinase
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  #23  
Old 02-19-2014
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Default

c
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Old 02-19-2014
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Default Lipid Catabolism

Aldolase reductase is rich in lens and nerve tissue (among others) and converts glucose to sorbitol, which causes osmotic damage.... CATARACTS
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Old 02-19-2014
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Default Lipid Catabolism

Aldolase reductase is rich in lens and nerve tissue (among others) and converts glucose to sorbitol, which causes osmotic damage.... CATARACTS
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  #26  
Old 02-19-2014
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Default Lipid Catabolism

A child is diagnosed with a congenital deficiency of medium-chain acyl CoA dehydrogenase activity. Which of the following signs or symptoms would most occur upon fasting in this child?
a.-Hypolactikacidemia
b.-Ketoacidosis
c.-Hyperglycemia
d.-Dicarboxylic acidosis
e.-Hyperchylomicronemia
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Old 02-19-2014
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Default Lipid Catabolism

The answer is D.- Fasted MCAD (medium-chain acyl-CoA dehydrogenase) patients typically present with nonketotic hypoglycemia, lactic acidosis, and plasma dicarboxylates (D.-Dicarboxylic acidosis)
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  #28  
Old 02-19-2014
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Gaucher's? Crumpled tissue macrophages, hepatosplenomegaly

Last edited by Misha; 02-19-2014 at 05:56 PM.
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