Osteogenesis Imperfecta or Brittle Bone Disease, or “Lobstein syndrome”

 

Osteogenesis Imperfecta, OA or Brittle Bone disease

 

    Etiology

 

  • Osteogenesis Imperfecta is subdivided into 6 clinical types

  • genetic mutation collagen compromising bone formation and development

  • autosomal dominant pattern of inheritance

  • mutation in Type 1 collagen gene, however, type 4 has no detectable mutation

  • Causes bone fragility and low bone mass

  • results in moderate to severe increase in fragility of long bones and vertebral bodies

  • Elevated collagen type I N-telopeptide levels in urine (indicative of increased osseous hyperplasia due to fracture healing)

                   Clinical Presentation

                          Presentation/Fractures Pathologic Minimal Trauma

                         Note: May be suspect child abuse (prior to diagnosis)

 

                     Type 1

  • symptoms are mild

  • normal of near normal height

  • blue sclera (visible sign in the eye, indicative of collagen dysfunction)

                            Type 2

  • typically lethal in the perinatal period

                           Type 3

  • progressive deforming osteogenesis imperfecta

  • the most severe form in children surviving the neonatal period

  • characteristic phenotype

  • extreme short stature

  • severe spinal, thoracic and extremity deformities

  • blue sclera

                           Type 4

  • patients presenting with moderate to severe symptoms of osteogenesis imperfecta yet who do not fit into the above descriptions

                          Type 5

  • present with moderate to severe symptoms of osteogenesis imperfecta

  • have no detectable genetic mutation

                         Type 6

  • present with moderate to severe symptoms

  • have mineralization defect and present with accumulation of osteoid

  • note: osteoid is the organic matrix of protein and polysaccharides, secreted by osteoblasts, that becomes bone after it mineralizes

                             Tx

  • Symptoms and Pain management

  • Continued care for chronic condition

 

                            Sources:

  1. Bishop, Nicholas, J, Fassier, Francois, Glorieux, Delphine, F, Glorieux, Franis, H, Lalic, Ljiljana, Plotkin, Horacio, Rauch, Frank, Roughley, Peter, Travers, Rose and Ward, Leanne. 2000Type V Osteogenesis Imperfecta: A new form of brittle bone disease. Journal of Bone and Mineral Research. 15:1650-1658.

  2. Bishop, Nicholas, J, Fassier, Francois, Glorieux, Delphine, F, Glorieux, Franis, H, Lalic, Ljiljana, Plotkin, Horacio, Rauch, Frank, Roughley, Peter, Travers, Rose and Ward, Leanne. 2000Type V Osteogenesis Imperfecta: A new form of brittle bone disease. Journal of Bone and Mineral Research. 15:1650-1658.

 

 

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s

%d bloggers like this: