Lumbar disc herniation in osteogenesis imperfecta associated with a COL1A1 frameshift mutation: A case report and review.

RATIONALE

Osteogenesis imperfecta (OI) is a genetic disorder of mesenchymal hypoplasia and collagen defects. Whether abnormal type I collagen predisposes OI patients to multilevel lumbar disc herniation remains unclear.

PATIENT CONCERNS

An 18-year-old male with childhood-diagnosed type I OI (fragility fractures, blue sclera, dentinogenesis imperfecta, severe osteoporosis) developed progressive low-back pain and bilateral radiculopathy.

DIAGNOSES

Magnetic resonance imaging revealed multilevel lumbar disc herniation with relatively mild nucleus pulposus degeneration. Whole-exome sequencing identified a de novo COL1A1 frameshift mutation (c.441delC, p.Gly148Aspfs*117) resulting in premature termination. AlphaFold 3 modelling predicted markedly truncated and structurally altered chains.

INTERVENTIONS

Minimally invasive microdiscectomy, systemic antiosteoporosis therapy (bisphosphonate, calcium/vitamin D), and staged functional rehabilitation were implemented.

OUTCOMES

Neurological symptoms improved postoperatively during >2 years of follow-up, while a new femoral fracture occurred in 2023.

LESSONS

OI patients with COL1A1/COL1A2 mutations may have heightened susceptibility to disc herniation despite modest disc degeneration. Integrating magnetic resonance imaging, genetic testing, and artificial intelligence structural modelling refines diagnosis and pathophysiological understanding. Multidisciplinary management combining targeted surgery, antiosteoporosis therapy, and rehabilitation optimizes long-term outcomes.

Copyright © 2025 the Author(s). Published by Wolters Kluwer Health, Inc.