Early-onset juvenile Paget disease associated with a homozygous intronic TNFRSF11B variant: a 2-year follow-up.
Rabia Meral, Mustafa Gökoğlu
✦ AI-curated · Sources linked
Case in brief
A 2-month-old infant presented with severe irritability and pain on gentle movement, femoral swelling, and persistent hyperphosphatasemia. A skeletal survey showed findings compatible with juvenile Paget disease, and genetic analysis identified a rare homozygous intronic TNFRSF11B variant. Pamidronate was followed by marked biochemical and clinical improvement, including reduced alkaline phosphatase compared with baseline, resolution of pain, and preservation of neuromotor milestones over 2 years. Cardiovascular evaluation, vascular imaging, and ophthalmologic examinations showed no abnormalities.
What made this case unusual
The disease presented at 2 months of age with severe pain and femoral swelling, alongside a homozygous intronic TNFRSF11B variant.
Diagnostic / clinical pearl
In an infant with persistent hyperphosphatasemia and skeletal abnormalities, consider juvenile Paget disease and integrate clinical, radiologic, and genetic evaluation.
Why it matters
Improvement in skeletal disease activity does not exclude later extraskeletal manifestations; the report emphasizes continued long-term surveillance.