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| USMLE Step 2 CK Forum USMLE Step 2 CK Discussion Forum: Let's talk about anything related to USMLE Step 2 CK exam |
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#1
09-28-2012
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A 1-yr old boy with abnormal movements
A 1-year-old boy is brought to the pediatric neurologist for writhing movements. These movements started one week ago and are quick jerking movements of the arms, hands, and legs with slow writhing movements interspersed. He has not pulled himself to standing yet but can crawl. His birth history is unremarkable and he has been otherwise healthy.
On review of systems his mother reports seeing him try to hit himself with his fi sts. His vital signs are stable. His neurological examination is notable for the movements described above; cranial nerves II–XII are intact and he has gross hypertonia. Laboratory tests show: Na+: 142 mEq/L K+: 4.1 mEq/L Cl−: 102 mEq/L HCO3−: 23 mEq/L Blood urea nitrogen: 28 mg/dL Creatinine: 2.0 mg/dL Which of the following is the most likely diagnosis? (A) Galactosemia (B) Lesch-Nyhan syndrome (C) Maple syrup urine disease (D) Phenylketonuria (E) Wilson’s disease
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#2
09-28-2012
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(B) Lesch-Nyhan syndrome
__________________
A man doesn't know what he knows until he knows what he doesn't know. “What is man? He's just a collection of chemicals with delusions of grandeur.”
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#3
09-29-2012
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(B) Lesch-Nyhan syndrome
Self mutilation is seen in Lesch-Nyhan syndrome...No other clue i could get..
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#4
09-29-2012
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Correct answer is B
__________________
Try Not To Become A Man Of Success But A Man Of Value.
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#5
09-30-2012
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Just to add, USMLE is not that kind, lets know the enzyme!
IS Hypoxanthine guanine phosphoribosyltransferase
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| Pediatrics-, Step-2-Questions, Syndromes-Acronyms |
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