Pediatric Puzzler. August 2007. Chief Complaint. “My baby is not right and she’s got yellow eyes”. HPI. 5 week old Caucasian female who presents with lethargy, jaundice and poor weight gain. PCP referred to a gastroenterologist for rising direct hyperbilirubinemia. PMH. Birth history:
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Don’t be afraid to ask…
Top 3 diagnoses
Top 3 tests
…with rationale por favor
As a group, refine your problem definition and differential
Do we need any other labs/ tests? Why?
AD genetic d/o with paucity of bile ducts. May also have PPS and vertebral defects
Long nose with bulbous tip
Why does this girl have central DI?
What tests do we want now?
Septo-Optic Dysplasia (SOD)
What are your take away points?
Hope you enjoyed the puzzler and learned something new!