hope4dabest
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A couple has four children, three girls and a boy. The girls are healthy, but the boy develops corneal opacities, painful neuropathies, and multiple, violaceous nodules distributed diffusely over his skin.
Two of the daughters marry and have a total of seven children. As shown in the pedigree above, two of these children develop the same syndrome as did the affected son in the F1 generation.
Which of the following is the likely diagnosis?
A. Fabry's disease
B. Gaucher's disease
C. Krabbe's disease
D. Metachromatic leukodystrophy
E. Niemann-Pick disease
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| hope4dabest
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Sorry no pedigree was given
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| Ujk
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A. Fabry's disease
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| sfk
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agree, A
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| hope4dabest
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Yep..Its A
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| adiagra
Forum Newbie
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pls explain ujk or sfk
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| Dr_Cosme
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Well, the way I would answer this question is because all of the lysosomal storage diseases that are listed here are autosomal recesive, except for Frabry's which is X linked recesive. Besides, if the pedigree was available and we only see males affected in both generations, it would help a lot.
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| imnalini
Forum Senior
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other x linked recessive disorders-BE Wise Fools GOLD Heeds False Hope.
1brutons agama...............
2wiskott aldrich
3fragile x
4g6pd def
5ocular albinism
6lesch nyhan
7duchennes........
8hemophilia an b
9fabrys
10 hunters disease
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| imnalini
Forum Senior
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i agree with dr cosme
all lysosomal storage diseasae r ARexcept fabrys and hunterswhich r XR
BUT without a pedigree it requires liitle bit thinking----so remember
symtoms-----angiokeratomas of skin and neuropathies
pedigree-----if oly male child of a couple is affected there r only 2 possibilities
1y-linked disease
2XR
u dont need to worry abt other generations.
cosme any suggestions welcome........
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| hope4dabest
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Dr_Cosme wrote:Well, the way I would answer this question is because all of the lysosomal storage diseases that are listed here are autosomal recesive, except for Frabry's which is X linked recesive. Besides, if the pedigree was available and we only see males affected in both generations, it would help a lot.
that was exactly the point of putting this question here...great thinking Dr Cosme....God only knows when wil i start thinking like that
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| ShweHope99.9998
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hope4 , well count me in, I just realize that Qs are meant to be thinking like that recently when do Qs by doing Qs more with frds here there & also read the posts like this , but not long ago  , mainly by do Qs with frds or some one by think out loud & Qs why the answer is reaching too .
So ur not alone, since our system are not teaching big picture like that especially genetics are rare in our med countries .
But by asking , discussion qs here & there on line , off line frds u will b in the same stream thinker very soon, practice made perfect , just do alot of qs as u did ur read welll after or togerther .
By the way few mo or wks ago I was like that , cause cannot see the big picture & think that way, u just have to train urself with the help of the support here & frds as I said b4 , to get into the natural mode of answering the Qs to get the rt answer in the way of thinking like that .
GL 
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| hope4dabest
Forum Elite
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Thanks..well i have realized one thing..Repetetion is the key..GL
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| ShweHope99.9998
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Topics: 12
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hope4dabest wrote:
Thanks..well i have realized one thing..Repetetion is the key..GL
that too , still do think like that , it's fun .
But I am also not patient to think as like that, big picture .  thought it takes too long , time consuming . 
Thanks , GL to u too .
GL GL GL happy success study to us all
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