False-negative newborn screen for galactosemia in a neonate presenting with Escherichia coli sepsis and adenoviral infection
Hannah Bills, Liali Aljouda, Suzanne Laughlin, Jose Aguirre AldanaIntroduction:
We describe the case of a previously healthy 10-day-old term female infant presenting with symptoms of disseminated adenovirus infection, also found to have
Case presentation:
She required treatment with intravenous cidofovir, immunoglobulin, antibiotics, and multiple blood products. Brain MRI revealed severe edema, diffuse white matter changes, and a galactitol peak on MR spectroscopy, consistent with galactosemia. A soy-based formula was subsequently commenced. She was discharged home after 12 days and showed normal neurodevelopmental outcomes on follow-up at 12 months of age. Routine screening and a heel-prick blood test performed after birth demonstrated a false-negative result for galactosemia. Genetic testing identified a homozygous pathogenic variant in the GALT gene inherited from both parents, confirming the diagnosis of classical galactosemia.
Conclusion:
Negative newborn screening does not exclude galactosemia; the diagnosis should be considered in any newborn presenting with poor growth, abnormal liver function tests, and sepsis, particularly due to