Orbital Abscess in an Infant With STAT3 Hyper-IgE Syndrome.
Lucas McGuire, Neda Esmaili
✦ AI-curated · Sources linked
Case in brief
A 34-day-old girl presented with severe unilateral periorbital swelling and proptosis. Imaging showed a large orbital abscess with ethmoid sinusitis. She underwent urgent surgical exploration and drainage and received broad-spectrum intravenous antibiotics; cultures grew methicillin-sensitive Staphylococcus aureus. Postoperatively, leukocytosis, eosinophilia, and recurrent skin abscesses led to immunologic evaluation. Genetic testing identified a novel STAT3 mutation in the SH2 domain, consistent with Hyper-IgE syndrome.
What made this case unusual
The orbital infection occurred in a very young infant and led to recognition of Hyper-IgE syndrome; the report also describes a novel STAT3 variant in the SH2 domain.
Diagnostic / clinical pearl
In an infant with orbital cellulitis, atypical laboratory findings or recurrent skin abscesses should prompt consideration of underlying immune dysregulation.