Medicine · 2025
Lumbar disc herniation in osteogenesis imperfecta associated with a COL1A1 frameshift mutation: A case report and review.
Название и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
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Chen W, Ling G, Chen H, Chen S, Huang J, Lin C, Liu C
Аннотация
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.
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.