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Are you studying for the step exams or the shelf? Want to see many examples of the same condition in one place so you don't have to wait days to have concepts reinforced? If this sounds like you check out my posts! This post is on DiGeorge syndrome.
DiGeorge syndrome is a classic test topic. There is so much to discuss for this condition, however there is a common theme that is present throughout exam questions. Lets focus on some of the universal aspects here. Everyone knows the CATCH 22 pneumonic I am sure, but its important to really hone down on how this manifests on real test questions.
1.) Variable presentation: patients can present in many different ways and in many different settings. Unlike other topics I post about, I would say for DiGeorge syndrome, the presentation often isn’t very useful for making the diagnosis.
2.) History of recurrent infections. Let us remember that immunodeficiency is a chief characteristic of this condition. Patients can often have a history of infections (respiratory, both lower and upper, are common).
3.) Abnormal facial features: low set ears, cleft palate, hypoplastic jaw and many others can be noted on the physical exam. The important thing is to not necessarily focus on WHICH abnormality is present, but to understand when you have enough features to say that the patient has “abnormal facies” that would be consistent with DiGeorge syndrome.
4.) Hypocalcemia: patients may have a low serum value (make sure to note it if it is hidden with other labs!) or can have signs on the physical exam of hypocalcemia (like Trousseau sign, Chvostek sign).
5.) Cardiac abnormalities: murmurs, shunts, right sided aorta, coarctation of aorta, septal defects, and much more. Again the specific cardiac abnormality is not so important, so much as recognizing that a patient has “cardiac abnormalities” that would be consistent with DiGeorge syndrome.
I can't post links just yet (just started on SDN) but go to the website stepwards and search DiGeorge Syndrome to find the archive of questions that this post corresponds to.
DiGeorge syndrome is a classic test topic. There is so much to discuss for this condition, however there is a common theme that is present throughout exam questions. Lets focus on some of the universal aspects here. Everyone knows the CATCH 22 pneumonic I am sure, but its important to really hone down on how this manifests on real test questions.
1.) Variable presentation: patients can present in many different ways and in many different settings. Unlike other topics I post about, I would say for DiGeorge syndrome, the presentation often isn’t very useful for making the diagnosis.
2.) History of recurrent infections. Let us remember that immunodeficiency is a chief characteristic of this condition. Patients can often have a history of infections (respiratory, both lower and upper, are common).
3.) Abnormal facial features: low set ears, cleft palate, hypoplastic jaw and many others can be noted on the physical exam. The important thing is to not necessarily focus on WHICH abnormality is present, but to understand when you have enough features to say that the patient has “abnormal facies” that would be consistent with DiGeorge syndrome.
4.) Hypocalcemia: patients may have a low serum value (make sure to note it if it is hidden with other labs!) or can have signs on the physical exam of hypocalcemia (like Trousseau sign, Chvostek sign).
5.) Cardiac abnormalities: murmurs, shunts, right sided aorta, coarctation of aorta, septal defects, and much more. Again the specific cardiac abnormality is not so important, so much as recognizing that a patient has “cardiac abnormalities” that would be consistent with DiGeorge syndrome.
I can't post links just yet (just started on SDN) but go to the website stepwards and search DiGeorge Syndrome to find the archive of questions that this post corresponds to.
