Dysphagia, Neck mass, Lymphnodes, Scoliosis, & Lip Swelling! - USMLE Forums
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  #1  
Old 03-20-2012
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Question Dysphagia, Neck mass, Lymphnodes, Scoliosis, & Lip Swelling!

A 12-year-old girl presents to the pediatrician complaining of difficulty swallowing for the past few months. Her mother also noticed that her daughter’s lips looked swollen and she had developed small, yellowish white, painless bumps on her tongue, lips, and eyelids. On physical examination, the pediatrician detects an irregular-shaped, nontender 4- × 5-cm mass on the right anterior aspect of the neck in addition to multiple palpable cervical lymph nodes. There is also a localized pruritic rash over her upper back. Upon further questioning, the patient revealed that she was diagnosed with scoliosis at age 7, and she was hospitalized 2 years ago with a bowel obstruction but otherwise has no other past medical problems. Based on this information, which of the following is the most appropriate screening test for this condition?

A. Genetic testing
B. Measurement of basal serum calcitonin levels
C. Measurement of serum calcium and parathyroid hormone (PTH) levels
D. Measurement of serum gastrin after secretin stimulation
E. Measurement of urinary catecholamines
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Old 03-20-2012
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looks like MEN 2 syndrome.... most likely MEN 2B coz of the presence of mucosal neuromas- the yellow painless bumps and the scoliosis- part of the marfanoid habitus.... the masd in the neck is medullary thyroid cancer- which is also responsible for dysphagia..... i think the best test is to measure baseline calcitonin levels.
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Old 03-20-2012
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think is genetic testing as MEN syndrome pts have RET and it was mentioned as best screening test for these syndromes....
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Old 03-20-2012
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A. Genetic testing
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Old 03-20-2012
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oh yes... calcitonin was a mistake.. for MEN syndrome.. first we have to do genetic testing for RET gene.....
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Old 03-20-2012
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its men 2b and so genetic testing is right option
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Old 03-21-2012
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ya its men type 2 b and ans is RET genetic testing. thanks for reply.
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