pls reply with an answer

[Anonymous]

hi i saw a queston posted by kaka. and had tay sachs dxz and nieman picks dxz in the options. both have cheery red spots that appear on the macula. knowing that they have hexosaminidase and sphingomyelin deficiency respectively and both cause mental retardation. with a question like that and little information... i wanted to know if anyone knows any other difference with regards to the question.

Queston
A 2-year-old retarded child is evaluated by a metabolic
specialist. The child's history is significant for failure to
thrive and progressive neurologic deterioration, including deafness
and blindness. Physical examination is remarkable for hepatosplenomegaly, as well as a cherry-red spot on funduscopic examination. These symptoms are consistent with a diagnosis of
A. Hunter syndrome
B. Niemann-Pick disease
C. Pompe's disease
D. tyrosinosis
E. tay sachs disease

[Anonymous]

My guess is B. Niemann-Pick disease

The key word to distinguish is hepatosplenomegaly. Niemann-Pick has hepatospenomegaly and Tay Sachs does not. Other distinguishing features would be seen on electron microscope where Tay Sach shows whorled configurations in lysosomes that look exactly the same as lamellar bodies with surfactant in type 2 pneumocyes while Niemann-Pick shows zebra bodies in lysosomes.

And don't forget the FA mneumonic for Niemann-Pick disease, "Don't Pick your nose with your sphinger" :wink:


ref: kaplan path by goljan pg 134

[GABA]

I'm agree with you step 1, is Niemann-Pick, but I think the key word is the macular cherry red spots, coz in Hunter you can find mental retardation hepatosplecnomegaly but the ocular findings are retinitis pigmentosa and papiledema. If I'm wrong plz let me know, thank you.

[Anonymous]

i agree gaba, i was just responding to the original poster about the major difference between neimann-pick and tay sachs. but i completely agree that the cherry red spots is a major key in narrowing it down to those 2 choices. good point.