Wednesday, June 10, 2009

Screening

This female infant was born at home at 36 weeks gestation to a 40 year old mother. Parents declined routine newborn screening. Like the vast majority of infants with this disease, she did not have any clinical manifestations at birth because the defect is compensated by maternal placental transfer of the deficient molecule, shown below.She's now six weeks old and still has jaundice. She also has a bit of lethargy, a hoarse cry, poor feeding, macroglossia, an umbilical hernia, large fontanels, and hypotonia.

Challenge: What's the diagnosis?

Both images are in the public domain.

4 comments:

tree said...

Congenital hypothyroidism

shabnam said...

Congenital hypothyroidism!

Alex said...

thyroid hormone?

Craig Chen said...

I like how people actually used the molecule as a clue.
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Screening

The molecule shown is thyroxine, T4 (note the iodines). This infant has congenital hypothyroidism.

Sources: UpToDate; Wikipedia; phil.cdc.gov.