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.
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 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....
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
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)
This is an older thread, you may not receive a response, and could be reviving an old thread. Please consider creating a new thread.
Related Threads
?
?
?
?
?
USMLE Forums
402.5K posts
115.1K members
Since 2009
A forum community dedicated to the United States Medical Licensing Examination. Come join the discussion about schools, exams, news, prep, reviews, accessories, classifieds, and more!