Snyder-Robinson syndrome: differential diagnosis of osteogenesis imperfecta

Abstract

Snyder-Robinson syndrome is an extremely rare genetic disorder, caused by mutations of the spermine synthase gene. We report a novel case of Snyder-Robinson syndrome, caused by a de novo mutation and first misdiagnosed with osteogenesis imperfecta. Clinical features, course, and genetic analysis are presented. The patient was treated with bisphosphonates for a decade, until developing an atypical femoral fracture. Teriparatide was then administered for 2 years and then changed to denosumab every 6 months, improving his bone density mass and preventing further fractures.

Keywords: De novo mutation; Osteogenesis imperfecta; Osteoporosis; Snyder-Robinson syndrome; Spermine synthase; Spermine synthase gene.