X-linked Osteoporosis due to PLS3 Pathogenic Variant: Case Report on Zoledronic Acid Treatment in Siblings.
María Camila Velandia-Avendaño, María Paula Sarmiento-Ramón
✦ AI-curated · Sources linked
Case in brief
Two brothers presented with recurrent peripheral fractures and vertebral compression fractures, alongside low bone mineral density. Next-generation sequencing identified the same PLS3 deletion (c.589_590) on Xq23 in both, supporting X-linked osteoporosis. They received zoledronic acid, calcium, and vitamin D; the report describes improved bone mineral density, fewer fractures, and better quality of life.
What made this case unusual
The report links the brothers’ shared PLS3 variant to a familial presentation of X-linked osteoporosis with both peripheral and vertebral fractures.
Diagnostic / clinical pearl
In children with recurrent fractures and low bone mineral density, a genetic cause such as a PLS3 pathogenic variant may be relevant, particularly when similar findings occur in siblings.