Differential Diagnosis for a 4-week-old Boy with Changed Bowel Pattern and Jaundice
- Single most likely diagnosis:
- Biliary atresia: This condition is characterized by the absence or blockage of the bile ducts, leading to jaundice, pale stools, and hepatomegaly. The absence of the gallbladder on ultrasound and the clinical presentation strongly support this diagnosis.
- Other Likely diagnoses:
- Neonatal hepatitis: This condition can cause jaundice, hepatomegaly, and changes in stool color. However, the absence of the gallbladder on ultrasound makes biliary atresia more likely.
- Choledochal cyst: A congenital anomaly of the bile duct that can cause jaundice and hepatomegaly. However, the ultrasound findings would likely show a cystic structure, which is not mentioned.
- Do Not Miss (ddxs that may not be likely, but would be deadly if missed):
- Alagille syndrome: A genetic disorder that affects the liver, heart, and other organs. It can cause jaundice, hepatomegaly, and pale stools. Although less likely, missing this diagnosis could lead to significant morbidity and mortality.
- Metabolic disorders (e.g., galactosemia, tyrosinemia): These conditions can cause liver dysfunction, jaundice, and hepatomegaly. Although rare, they can be deadly if not diagnosed and treated promptly.
- Rare diagnoses:
- Paucity of interlobular bile ducts: A rare condition characterized by a reduction in the number of bile ducts, leading to jaundice and hepatomegaly.
- Congenital infections (e.g., CMV, rubella): These infections can cause liver dysfunction and jaundice in newborns, although they are less likely given the clinical presentation and ultrasound findings.
- Genetic disorders (e.g., progressive familial intrahepatic cholestasis): These conditions can cause liver dysfunction and jaundice, but are rare and often have distinct clinical features.