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Step I cherry red macula
Started by sj786
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both have it.
Taysach's has onion-skinning lysosomes
Niemann-Pick has foamy cells.
both also have progressive neurodegeneration
Also, the enzyme def's are different.
Taysach's has onion-skinning lysosomes
Niemann-Pick has foamy cells.
both also have progressive neurodegeneration
Also, the enzyme def's are different.
Also central retinal artery occlusion has it too.
Right, its a nonspecific sign of retinal degeneration. In these 2 dz, it is caused by lysosomal enzyme deficiencies.
Yep.
Sphingomyelinase for NP
Hexosimonodase A (spelling?) for TS.
Sphingomyelinase for NP
Hexosimonodase A (spelling?) for TS.
FWIW, the only step 1 question I had on lysosomal storage diseases was only testing if I could recognize that a disease was a LSD or not. People see the full page LSD entry in FA and go nuts over it, but its really low-yield compared to other concepts.
What do you mean? like a histo pic and asked to recognize it? or a vignette describing one of them and asking what type of storage disorder it was?
I can't even remember the dz my question was asking about but the question was similar to this: "Pt. comes in after having normal development for the first 12 mos of life and then began to experience developmental delay. A cherry-red spot was observed on fundoscopic exam. Numerous neurological deficits were noted on PE. What organelle is most likely involved in the pathogenesis"
Lysosome was the most obvious answer. Kinda goes back to the whole "this test is all concepts" mantra everyone talks about. You might not even have to differentiate Niemann-Pick from Tay-Sachs, but knowing general concepts and symptoms related to LSD's is important. Knowing specifically that Fabry's causes kidney problems or that Niemann-Pick causes hepatosplenomegaly is less important if it comes at the expense of being comfortable with the concepts of LSD or most of the other high-yield concepts.
Lysosome was the most obvious answer. Kinda goes back to the whole "this test is all concepts" mantra everyone talks about. You might not even have to differentiate Niemann-Pick from Tay-Sachs, but knowing general concepts and symptoms related to LSD's is important. Knowing specifically that Fabry's causes kidney problems or that Niemann-Pick causes hepatosplenomegaly is less important if it comes at the expense of being comfortable with the concepts of LSD or most of the other high-yield concepts.
Yeah, that is pretty obvious. Good call, thanks for the tip!
ugh.. i wish i didnt waste so much time on it
