Complete congenital agenesis of major salivary glands: case report and systematic review of the literature.
Fady Daniel, Mun Chun Cheong, Eric Levi
✦ AI-curated · Sources linked
Case in brief
This report concerns congenital absence of all major salivary glands, a developmental cause of xerostomia in children. The accompanying systematic review identified 20 reported cases in patients younger than 18 years; mean age at presentation was 6.4 years (range 9 months-16 years). Xerostomia and dental caries were reported in 80% and 100% of cases, respectively, and half had lacrimal involvement. Testing varied and was often used to exclude Sjögren's disease; Tc-99m scintigraphy was the most common diagnostic modality. The review emphasizes imaging, serology and genetic testing to support identification and management.
What made this case unusual
The diagnostic challenge is distinguishing congenital gland absence from acquired or autoimmune xerostomia, particularly juvenile Sjögren's disease; lacrimal involvement and occasional syndromic association may also be relevant.
Diagnostic / clinical pearl
In a child with xerostomia and dental caries, consider congenital major salivary gland agenesis and assess with imaging and serology rather than assuming an acquired autoimmune cause.
Why it matters
Recognition can help identify children at risk of dental morbidity and support early management to prevent complications.