A 2-Month-Old Boy Is Brought to the Emergency Department Due

A 2-month-old boy is brought to the emergency department due to progressively worsening "floppiness" and poor feeding.  The infant was born in Eastern Europe via an uncomplicated vaginal delivery to a 38-year-old woman and then immigrated to the United States with his family.  The parents describe the infant as a "good baby" who rarely cries and sleeps through the night but has lately been difficult to rouse for breastfeeding.  Stools have also decreased to every other day and are small and pellet-like.  Physical examination shows a hypotonic infant with a large anterior fontanelle, large tongue, and a reducible umbilical hernia.  He has low tone and is unable to hold his head erect on his own.  No other abnormalities are seen.  Which of the following is the most likely cause of this patient's condition?

A) Botulism
B) Down syndrome
C) Galactosemia
D) Hirschsprung disease
E) Hypothyroidism
F) Phenylketonuria

Correct Answer:

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