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Old 09-28-2012
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Question 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  
Old 09-28-2012
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(B) Lesch-Nyhan syndrome
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Old 09-28-2012
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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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Correct answer is B
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Old 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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