Galactosemia

A September 1999 account on the Save Babies Through Screening Foundation web site told the tragic story of T.  He went home at 24 hours of age with plans to get his neonatal screening at 5 days of age:

When we took him in for the test, the doctor realized T had jaundice and performed a test for that as well.  His jaundice level was 29.8 which is critically high.  T was admitted back to the hospital for four days under bili lights to bring his jaundice level down. While at the hospital, he became increasingly more lethargic, non-responsive to pain, and continuously vomited feedings.  All these complaints were dismissed because they seem to be such "common" symptoms for newborns. 

He went home but returned within hours due to extreme lethargy and he died several days later of septicemia.  His neonatal screening test, which showed Galactosemia, was not received at the testing lab until 3 days after his death. 

Click here to see the result in SimulConsult Diagnostic Decision Support with all the findings combined together; Galactosemia is by far the leading diagnosis.

T's parents formed the foundation that became the Save Babies Through Screening Foundation.  The foundation has more family stories here.

Registration is required to click into the software because access to the software is restricted for legal reasons to medical professionals and students.

If you know of interesting cases in the news, in journals or on open Web sites of hospitals or foundations, please contact us and include enough information for us to find the material. The differential diagnosis will change over time as people mull over the case and submit new information to the database about findings in the relevant diseases.