Differential Corner #3

Curated by Dr Aditya Verma,Content Team

1. A 3-week-old infant presents to the pediatric clinic with persistent jaundice since birth. The parents report that the baby's stools have become pale in color, and there is no history of dark urine. The baby is exclusively breastfed, and the mother reports no significant medical history during pregnancy or delivery. On examination, the baby appears well-nourished, no facial dysmorphism, and active, with hepatomegaly noted on palpation. Other systemic examinations are normal. What is your diagnosis? 

2.A 6-week-old infant is brought to the pediatrician with jaundice and poor weight gain. The parents report that the baby's stools are consistently pale, and there is no history of dark urine. The baby is formula-fed, and there is no significant maternal medical history. On examination, the baby appears jaundiced, with a murmur noted on cardiac auscultation. Facial examination reveals a prominent forehead, deep-set eyes, and a pointed chin. What is your diagnosis? 

3. A 1-month-old infant is brought to the pediatrician with prolonged jaundice. The parents report that the baby has been constipated and has poor weight gain. There is no history of dark urine or pale stools. The baby is exclusively breastfed, and there is no significant maternal medical history. On examination, the baby appears jaundiced, with dry skin, a hoarse cry, and a distended abdomen. What is your diagnosis? 

All 3 diagnoses have a connection. What is it? 

Check out previous differential corners in the past editions in the archives section!