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* Peds NBME 3
  kruptkobe - 03/20/18 13:32
  12. A 6-day old girl is brought to the physician because of vomiting for 2 days. She has not had fever. She was born at term following an uncomplicated pregnancy, labor, and delivery. Results of newborn screening are pending. She was discharged at the age of 1 day. She is exclusively breast-fed and is feeding every 3 hours. She is at the 50th percentile for length and head circumference and 5th percentile for weight. Examination shows generalized jaundice. The liver is enlarged and firm. Her serum total bilirubin concentration is 14 mg/dL, with a direct component of 8 mg/dL. Test of the urine for reducing substances is positive. Which of the following is the most likely diagnosis?
A) Galactosemia
B) Hereditary fructose intolerance
C) Mucopolysaccharidosis II
D) Type I glycogen storage disease
E) Tyrosinemia

I think it's D because reducing substances is positive, hepatomegaly, jaundice...but not sure if A or B could also be correct? Are reducing substances positive in hereditary fructose intolerance? There isn't cataracts to definitely say D...
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* Re:Peds NBME 3
  virgo32 - 03/20/18 20:27
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* Re:Peds NBME 3
  kruptkobe - 03/21/18 17:55
  why not D?

btw I meant to say we can't definitely say A because there was no mention of cataracts
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* Re:Peds NBME 3
  cardio69 - 03/21/18 18:26
  D/Von Gierke ( def G6P)/hepatomegaly/Ketotic hypoglycemia( failure of glucose metab*)/hyperlipidemia/ hyperuricemia* in neonate also hypoglycemia -> seizure can present/or lactic acidosis, thrombocyte dysfunction do u see any of that?

For your 2nd doubt, only 1/3 of newborns present classic galactosemia with cataracts few days that take time usually wks of life.
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* Re:Peds NBME 3
  hussain_9595 - 08/29/19 18:14
  so whats the answer? can anybody here answer that?  
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* Re:Peds NBME 3
  jdo - 09/02/19 15:07
  A its galactosemia it takes 14 days for a mature nuclear cataract to form. This child is currently 6days . All other features are in keeping with galactosemia.  
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