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OI Radiologic Findings

OI Radiologic Findings. Wil File Radiology Rotation M4 Student Presentations 8/22/06. Osteogenesis imperfecta (OI) also known as Brittle Bone Disease, heritable disorder of connective tissue with 4 subtypes.

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OI Radiologic Findings

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  1. OI Radiologic Findings Wil File Radiology Rotation M4 Student Presentations 8/22/06

  2. Osteogenesis imperfecta (OI) also known as Brittle Bone Disease, heritable disorder of connective tissue with 4 subtypes. • Hallmark feature is bone fragility, with a tendency to fracture from minimal trauma.

  3. Incidence • Incidence of forms of OI recognizable at birth is 1/20,000. • Incidence of mild forms not recognizable until later in life is ~1/21,000 • OI + Marfan’s Syndrome are the most common heritable connective tissue disorders • No racial or ethnic predilection

  4. Subtypes of OI

  5. History/Physical Points in OI History/Physical • frequent fractures, minimal trauma • deafness • blue sclerae • easy bruisability • joint laxity • discolored or softened teeth (dentinogenesis imperfecta) • short stature • abnormal skull shape • heat intolerance or excessive sweating • family history of above features

  6. X-ray Findings: • Fractures of all types occur in OI • No consistent pattern of fracturing, many individuals have long fracture-free periods • Can be seen in antenatal US + diagnosed with CVS

  7. Wormian Bones

  8. Basilar Invagination

  9. Spinal Findings

  10. OI vs. Child Abuse

  11. Common Abuse Fracture

  12. Diagnostic Workup • History/PE findings consistent with OI • May need skin biopsy (collagen study), blood sample (DNA analysis) or bone histology to make definitive diagnosis • DEXA of lumbar vertebral bodies for relatively quantitative assessment of pt.’s osteoporosis

  13. Treatment • Conventional: intensive physical rehabilitation, with orthopedic intervention as needed. • Pharm: bisphosphonates

  14. Neuffer Teaching Point • “Yes his heart is a little large and no it is not supposed to touch the left chest wall and yes this is consistent with LV hypertrophy BUT it does NOT take away the fact that this guy is sh---ing all over his peritoneum.” -Dr. Neuffer

  15. Worked Cited • Wendy, Lane. “Diagnosis and Management of Physical Abuse in Children.” Clinical Family Practice 2005 Jun 5(2) 493. • Antonazzi, Franco, Zamboni, Gorgio. “Early Bisphosonate Treatment in Infants with Severe Osteogenesis Imperfecta.” Journal of Pediatrics 01-Aug-2006; 149(2):174-179. • Behran, Kliegman, Arvin. “Osteogenesis Imperfecta.” Nelson Textbook of Pediatrics 17th Ed. 2336-2338. • Beary, John F.,Chines, Arkadi. “Clinical Features and Diagnosis of Osteogenesis Imperfecta.” UpToDate Accessed August 20, 2006

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