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  #1  
Old 08-05-2013
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Kids Peds Question #7

A general practitioner refers to you for evaluation of a 3 year old boy with frequent infections. You note the child to have a loud systolic murmur, posteriorly rotated ears and a small jaw. At birth the child had "Symmetric contractions" that were treated with some "medicine" that the mother cant recall and that the general practitioner forgot out of the blue. The mother mentions that the child receives some kind of "supplement" because of those contractions.
What would be the next best step in diagnosis?
A. ESR.
B. Serum Ig's
C. Nitroblue tetrazolium test.
D. CH50 assay.
E.Bone Marrow biopsy.
F. Intradermal fungal skin test.

After you pick the previous answer mention the most likely diagnosis... with genetic support.
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Old 08-05-2013
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ok that my friend is Digeorge syndrome. The phsycial fish mouth and lack of calcium that causes contractions give it away. There is a T cell def which makes you susceptible for fungal infections. its not A....Or C or E. Serum IG's are normal in these patients since they have normal B cells. So i'll have to go with F...Intradermal Fungal Skin test. I hope its right (Educated guess)
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Old 08-05-2013
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mild-to-moderate defect in T-cell lineage secondary to thymic hypoplasia ---->intradermal skin test for yeast....
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Old 08-05-2013
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F. Intradermal fungal skin test.
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Quote:
Originally Posted by Kais_MD View Post
ok that my friend is Digeorge syndrome. The phsycial fish mouth and lack of calcium that causes contractions give it away. There is a T cell def which makes you susceptible for fungal infections. its not A....Or C or E. Serum IG's are normal in these patients since they have normal B cells. So i'll have to go with F...Intradermal Fungal Skin test. I hope its right (Educated guess)
Yes this is the correct answer. This child is manifesting the hypocalcemic tetanic spasms that are characteristic of DiGeorge syndrome (along with seizures), the facial dysmorphism is characteristic of the disease. This child is probrably receiving Calcium supplements because they are born without Parathyroids.
They lack the development of the 3rd and 4th pharyngeal pouches.
The 3rd develops the thymus and inferior PTH glands, whereas the 4th develops the superior PTH glands. The lack of thymus on this patients is responsible for the cellular immunity deficiency this patients suffer from, a quick test to measure this immunity is via the fungal skin test, which is basically a PPD with Candida.

The genetic insult is found on chromosome 22q11, the mnemonic CATCH 22 is useful here (I told everyone to answer with genetic basis and no one did ).
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Old 08-05-2013
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Quote:
Originally Posted by XpaezX View Post
Yes this is the correct answer. This child is manifesting the hypocalcemic tetanic spasms that are characteristic of DiGeorge syndrome (along with seizures), the facial dysmorphism is characteristic of the disease. This child is probrably receiving Calcium supplements because they are born without Parathyroids.
They lack the development of the 3rd and 4th pharyngeal pouches.
The 3rd develops the thymus and inferior PTH glands, whereas the 4th develops the superior PTH glands. The lack of thymus on this patients is responsible for the cellular immunity deficiency this patients suffer from, a quick test to measure this immunity is via the fungal skin test, which is basically a PPD with Candida.

The genetic insult is found on chromosome 22q11, the mnemonic CATCH 22 is useful here (I told everyone to answer with genetic basis and no one did ).
You are right...but i doubt genetic basis will be asked and although i recognized it after you said it..I doubt I would've recalled it by myself.
Keep it up...The questions are awesome......How about some gyn?
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Old 08-05-2013
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Originally Posted by Kais_MD View Post
You are right...but i doubt genetic basis will be asked and although i recognized it after you said it..I doubt I would've recalled it by myself.
Keep it up...The questions are awesome......How about some gyn?
You never know, I have heard people have been asked about this or about the embryological basis.. think about it.. it is something you forget by the time you get to step 3! If I was a test writer I would definitely ask it just to screw with some people hahaha.

I will post 2 more peds and then some ob-gyn
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Old 08-05-2013
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Originally Posted by XpaezX View Post
You never know, I have heard people have been asked about this or about the embryological basis.. think about it.. it is something you forget by the time you get to step 3! If I was a test writer I would definitely ask it just to screw with some people hahaha.

I will post 2 more peds and then some ob-gyn
haha...Good god I hope my test writer isn't so sinister to ask embryo lol. :sorry:
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