What is the diagnosis for an 8-year-old boy with abdominal pain, vomiting, scleral icterus, epigastric tenderness, hyperbilirubinemia, and elevated lipase levels, with an extrahepatic cystic mass on ultrasonography?

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Differential Diagnosis for an 8-year-old boy with abdominal pain and jaundice

  • Single most likely diagnosis:
    • Choledochal cyst: This condition is characterized by a congenital anomaly of the bile duct, leading to the formation of a cystic structure that can cause obstructive jaundice and abdominal pain. The presence of a cystic mass in the right upper quadrant, scleral icterus, and elevated direct bilirubin levels support this diagnosis. The ultrasonography findings of an extrahepatic cystic mass also point towards a choledochal cyst.
  • Other Likely diagnoses:
    • Pancreatic pseudocyst: The elevated lipase levels and epigastric tenderness could suggest a pancreatic pseudocyst, which is a fluid collection in the pancreas that can cause abdominal pain and obstructive jaundice. However, the absence of a history of pancreatitis or trauma makes this diagnosis less likely.
    • Biliary atresia: Although biliary atresia typically presents in infancy, it can occasionally be diagnosed later in childhood. The presence of jaundice and a cystic mass could suggest biliary atresia, but the age of the patient and the lack of other characteristic features make this diagnosis less likely.
  • Do Not Miss (ddxs that may not be likely, but would be deadly if missed):
    • Pancreatic cancer: Although rare in children, pancreatic cancer can present with abdominal pain, jaundice, and a palpable mass. The elevated lipase levels could also suggest pancreatic involvement.
    • Hepatoblastoma: This is a rare liver tumor that can cause abdominal pain, jaundice, and a palpable mass. Although the ultrasonography findings do not specifically suggest hepatoblastoma, it is essential to consider this diagnosis due to its potential severity.
  • Rare diagnoses:
    • Caroli's disease: This is a rare congenital disorder characterized by non-obstructive dilatation of the intrahepatic bile ducts. It can cause abdominal pain, jaundice, and a cystic mass, but it is much less common than choledochal cyst.
    • Congenital hepatic fibrosis: This is a rare genetic disorder that can cause liver fibrosis, jaundice, and a palpable mass. However, it is typically associated with other systemic features and is less likely to present with a cystic mass in the right upper quadrant.

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This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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