Breaking The Cycle

Title: Breaking the Cycle History: A 13-year-old male athlete, active in tennis and baseball, presents with gradual onset of right posterior wrist pain, starting during an intense tennis camp where he practiced 10 hours daily. Pain was particularly triggered by backhand strokes and worsened after a recent baseball tournament with increased strain from gripping, swinging, and throwing. Initial assessment at urgent care diagnosed an extensor tendon strain, with rest alleviating the pain. PMH significant for low-impact fractures: a Salter-Harris I fracture of the right proximal tibia 3 months ago and nondisplaced fractures of three proximal phalanges on the left hand from finger hyperextension two years prior. Physical Examination: No swelling, erythema, or edema. Point tenderness over the distal radial diaphysis-metaphyseal junction. Full range of motion in wrist flexion, extension, ulnar and radial deviation, supination, and pronation. Strength: 4/5 in wrist flexion and extension, 5/5 in other planes. Differential Diagnosis: Includes distal radial diaphyseal fracture, distal radial bony stress injury, "Gymnast’s wrist," osteoid osteoma, and wrist extensor muscle strain. Tests and Results: Initial wrist X-ray showed transverse sclerosis in the distal radial metaphysis, with follow-up imaging confirming a healing distal radial meta-diaphyseal fracture. DEXA scan indicated low bone density with lumbar spine BMD at 0.522 g/cm2 (z-score -2.6, height-adjusted -2.1) and total body BMD at 0.763 g/cm2 (z-score -1.8, height-adjusted -1.2). Genetic testing identified mutations of uncertain significance in LRP5, FGFR2, and EVC2 genes. Final Working Diagnosis: Distal radial diaphyseal stress fracture related to osteoporosis Diagnosis and Management: Further evaluation diagnosed osteoporosis, likely related to an LRP5 mutation impacting the Wnt signaling pathway crucial for bone formation. FGFR2 mutation may contribute to bone fragility syndromes like bent bone dysplasia or osteogenesis imperfecta. The patient was treated with a wrist brace and underwent one zoledronic acid infusion. Approximately two months post-injury, he began a supervised return-to-play program.