jewish child! - iced

[ArchivalUser]

at the age of 3 years a jewish child started getting seizures, increased startle reflex to noise,,within few months he went blind and deaf . and eventually his muscles got paralyzed.... ! on examination physician noticed big abdomen ,,and a cherry red spot in his eyes! at the age of 4 years he died. what do u think the child had?
1> krabbe's disease
2> hunter's disease
3> niemann pick disease
4> tay sachs disease!

[ArchivalUser]

please exclude the "big abdomen part" out of this question....! thats not included!

[ArchivalUser]

waiting for the answer iced i studied the storage ds with you today...

[ArchivalUser]

444

[ArchivalUser]

its Tay sachs disease...!
actually iam confused abt the niemann pick disease and tay sachs disease in a sense that they both have cherry red spot in the eye they both show progressive neurodegeneration.

so what do u think guys? how would u differentiate the niemann pick disease from tay say sachs diasease.....
i was thinking about hepatospleenomegaly..... i think in tay sachs u dont see that ...while in niemann pick there is an obvious heptaospleenomegaly... what do u think...

[ArchivalUser]

piece of cake,

44444) Tay Sach's Disease

Key points are: Jewish Child, Increased startle reflex to noise, Blind & Deaf, and most excitingly is " Cherry Red Spot in the eye"

Thanks for the question,

GL

[ArchivalUser]

thanks ya i guess it HSM that differentiates read in kaplan i think.

[ArchivalUser]

All patients with Tay-Sachs have a "cherry-red" spot in the back of their eyes (the retina). This red spot occurs where the optic nerve enters the orbit of the eye, and is symptomatic of the degeneration of neurons throughout the brain. Microscopic analysis of neurons shows that they are distended from excess storage of gangliosides.
Niemann-Pick disease is an inherited condition involving lipid metabolism (the breakdown and use of fats and cholesterol in the body) in which harmful amounts of lipids accumulate in the spleen, liver, lungs, bone marrow, and brain.disease may include signs of hepatosplenomegaly, growth retardation, and problems with lung function including frequent lung infections. Other signs include blood abnormalities such as abnormal cholesterol and lipid levels, and low numbers of blood cells involved in clotting (platelets).

[ArchivalUser]

for iced's confusion:

cherry red spot both in nieman pick and taysachs,
hepatosplenomegaly in NP but not in tay sachs
typical vacuolated cells in bone marrow in NP

[ArchivalUser]

cherry red spot + almost %100 in tay sachs and about %50 + in NP