Hello sages of PEM,
My chief residents are putting together a grand round presentation whereby hypothetical cases are presented as a jumping board for discussion on some salient clinical questions. One of the cases they want to put together is a neonate who presents to the PED with inborn error of metabolism.
While there are plenty of texts out there, I have never seen/ diagnosed first hand a case of neonatal IEM. Would any of you mind sharing your experience and let me know what are telltale or classic history/ exam findings/ signs/ symptoms that would help clinch the diagnoses?
Thanks in advance for your collective wisdom.
Advocate Christ Hospital
Oak Lawn, IL
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