A 3-month-old girl with failure to thrive.

This 3-month-old girl was evaluated for failure to thrive and jaundice. She was the 2,685-gram product of a full-term, uncomplicated pregnancy, labor, and delivery to a 21-year-old gravida 2 para 2 (G2P2) woman. Shortly after birth, it became clear the child had signifi cant failure to thrive and jaundice despite multiple manipulations of formula. She had an extensive evaluation after being found to have cholestatic jaundice. Two liver biopsies were performed at an outside hospital, which showed paucity of bile ducts. She had a normal echocardiogram and normal ophthalmologic examination. She was drinking only 15 oz a day of a cow’s milk-based formula, requiring 20 minutes to drink between 1 to 3 oz. There was no history of vomiting, coughing, or choking, but she had intermittent acholic stools. Family history was unremarkable. On exam, she was a scrawny, malnourished-appearing girl. Her weight, length, and head circumference were all well below the 5th percentile, although they had been in the 25th percentile at birth. She had two patches of hyperpigmentation on her back and trunk. She had extremely prominent cheeks but was not dysmorphic otherwise. She was normocephalic.