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  #1  
Old 08-26-2010
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Kids DiGeorge syndrome presentation

DiGeorge syndrome is characterized by malformations attributed to abnormal development of the pharyngeal arches and pouches. Most commonly, the third and the fourth pharyngeal pouches are affected. What is a child with DiGeorge syndrome most likely to present with?

A. Cardiac Malposition
B. Hypercalcemia
C. Deficiency of neutrophils
D. Hypothyroidism
E. Behavioral disorders
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Quote:
Originally Posted by step1an View Post
DiGeorge syndrome is characterized by malformations attributed to abnormal development of the pharyngeal arches and pouches. Most commonly, the third and the fourth pharyngeal pouches are affected. What is a child with DiGeorge syndrome most likely to present with?

A. Cardiac Malposition
B. Hypercalcemia
C. Deficiency of neutrophils
D. Hypothyroidism
E. Behavioral disorders
D. Hypothyroidism
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  #3  
Old 08-26-2010
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D. Hypothyroidism....autoimmune disease r common in pt with DiGeorge syndrome...
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Old 08-26-2010
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DiGeorge syndrome = CATCH 22
Cardiac Abnormality (mostly tetralogy of Fallot)
Abnormal facies
Thymic aplasia
Cleft palate
Hypocalcemia.
22q11 chromosome deletion

Therefore answer is D. Hypothyroidism
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Default A little confused...

Sorry guys, I think it's late at night and my brain's not working but what does hypothyroidism have to do with the hypocalcemia of DiGeorge syndrome? The hypocalcemia seems to me to be because of hypoparathyroidism. How did we go from that to hypothyroidism? I know its probably a stupid question but Dr. Khushboo said something about autoimmune diseases?
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hmm.....in our books only few symptoms r given but actually it can lead to variety of other symptoms too....
autoimmune disease r more common in digeorge syn. as ur few T cells( some that synthesize out of thymus) wont hv exposure to auto antigen that lead to education of T cells in thymus.....so they r prone to give rise autoimmunity...like hypothyroidism, thrombocytopenia....etc....
even schizophrenia is also common in these pt....dont know reason for it....

i m not sure the answer is correct or not...but i know about these 2 things....
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Quote:
Originally Posted by khushboo View Post
hmm.....in our books only few symptoms r given but actually it can lead to variety of other symptoms too....
autoimmune disease r more common in digeorge syn. as ur few T cells( some that synthesize out of thymus) wont hv exposure to auto antigen that lead to education of T cells in thymus.....so they r prone to give rise autoimmunity...like hypothyroidism, thrombocytopenia....etc....
even schizophrenia is also common in these pt....dont know reason for it....

i m not sure the answer is correct or not...but i know about these 2 things....
I have read the same thing as Khushboo is mentioning here.
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Sorry guys D. Hypothyroidism is not the right answer...

Quote:
Originally Posted by ashishkabir View Post
what does hypothyroidism have to do with the hypocalcemia of DiGeorge syndrome?
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Old 08-26-2010
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Then is it E. Behavioral disorders?
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Quote:
Originally Posted by step1an View Post
Sorry guys D. Hypothyroidism is not the right answer...
dont create suspense yar....
m dying to know correct ans....
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Well i wasn't trying to create suspense .....just wanted you people to reach at the answer yourself .

Answer is E. Behavioral disorders

You can rule out other options..

Children & adults with Gigeorge syndrome have high rates of behavioral. psychiatric and communication disorders.


BTW.... this question is from USMLE Consult.....
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both hypothyroidism n behavioral disorders occurs in digeorge syn. then how can we know which to select!!.....t think Q is not well written....
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Quote:
Originally Posted by step1an View Post
What is a child with Di George syndrome most likely to present with?

A. Cardiac Malposition
B. Hypercalcemia
C. Deficiency of neutrophils
D. Hypothyroidism
E. Behavioral disorders
Development of thyroid gland is not in any way affected by DiGeorge syndrome. So i don't think we should be bothered by this option....
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Quote:
Originally Posted by step1an View Post
Development of thyroid gland is not in any way affected by DiGeorge syndrome. So i don't think we should be bothered by this option....
it is not the developmental defect that is affecting thyroid but its a complication of thymic hypoplasia itself....

BTW behavioral disease r also not because of its basic pathology...but just an association....may be related to deletion on CH 22....
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may be we should consider age as differentiating factor...as autoimmunity doesnt occur in child....
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  #16  
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Default DiGeorge syndrome presentation

Yes the question asks "What is a child with DiGeorge syndrome most likely to present with?". And autoimmune diseases will take a longer time to manifest.
I am not sure but I read somewhere graves disease was associated with DiGeorge syndrome that also rules out hypothyroidism, don't remember the source though.
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  #17  
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hv a look at this....

http://en.wikipedia.org/wiki/DiGeorge_syndrome
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Quote:
Originally Posted by khushboo View Post
well wikipedia is good but you cannot be sure about authenticity of their information.


Have a look at this article from Medscape E medicine's website

I think their information is way more authentic than Wikipedia...
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Lolz!!!
It says digeorge asso with graves!!!
Whome to believe?
Neways just mugup the ans n go ahead we sould not use our mind that much....we hv lot other things to remember!!!!
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The only logical thing for this answer is the age factor or else its quite difficult to choose between thyroid and behavioural disorders here.
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Quote:
Originally Posted by khushboo View Post
Lolz!!!
It says digeorge asso with graves!!!
Whome to believe?
Neways just mugup the ans n go ahead we sould not use our mind that much....we hv lot other things to remember!!!!
Yes you are rite......
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