Osteogenesis Imperfecta Case Presentation 3l6uw

OSTEOGENESIS IMPERFECTA Management of fractures and nursing care Christian Micallef 11th April 2012

Case Presentation 

Joey, a six year old boy with Osteogenesis Imperfecta Type VIII - presented to the emergency department, accompanied by his mother, after hitting his left thigh off a table while driving his electric wheelchair.

Main Aims To get a better understanding of:  Osteogenesis Imperfecta (O.I.) as a condition  Management of fractures in children with O.I.  Nursing care of the child with O.I. and his/her family

Definition 



O.I. comprises a heterogenous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity (Forin, 2010; National Centre for Medical Genetics, 2012) UK: 1:15,000 (Brittle Bone Society, 2012)

History      

 

1000BC – Egyptian mummy 9th Century Denmark – Ivan the Boneless 1600s – Medical Literature (case studies) 1849 – Termed “Osteogenesis Imperfecta” 1906 – Divided into “congenita” and tarda” 1918 – inherited syndrome (fragile bones, blue sclera and early deafness) 1970s – Classification System Type I, II, III and IV (David Sillence) Present – addition of Type V, VI, VII and VIII (Glorieux and Rauch)

Classification 

  

  

Type I – mild Type II – perinatal lethal Type III – progressive deforming Type IV – moderate severe Type V – similar to Type IV (with dominant inheritance pattern) Type VI – similar to Type IV (characteristic mineralization defect seen in biopsied bone) Type VII and VIII – recessive types (recently identified, less than 10% of all cases)

O.I. Type VIII 





O.I. – mutation in either one of the type 1 collagen genes and inherited in an autosomal dominant fashion Unique loss of function mutation c.232delC in the LEPRE1/p3H1 gene was identified in the Irish Traveller population (Cabra et al, 2007) Children from the Travelling community with Type VIII O.I. are homozygous for this deletion (National Centre for Medical Genetics, 2012)

O.I. Groups 





Ireland - Facebook Page “Osteogenesis Imperfecta Ireland” UK – “Brittle Bone Society” (founded in 1968 in Dundee) USA – “Osteogenesis Imperfecta Foundation” (established in 1970)

The Nursing Process 



APIE - created by Ida Jean Orlando (1958) The Modified Nursing Process: Assessment Diagnosis Plan Implementation Evaluation

Assessment 

 



Triage – use of structured approach (ALSG, 2011) ABC – normal D – electric wheelchair to mobilize (restricted to same) E – Pain (Score of 3) to left thigh area, slight swelling noted – no analgesia given prior to attendance

Diagnosis 

Nursing Diagnosis – Possible fracture to the left femur

Plan 

 

Comfort – Pain Management (Joey refused analgesia at triage) Triaged at Category 2 Seen by one of the a&e consultants: Possible fractured femur (x-ray)  If fractured, provide treatment as required  Nursing Care and Discharge Planning 

Intervention 



  

X-Ray – undisplaced fracture of the left femoral shaft Review by orthopaedic surgeons – surgery not advisable – treated with a single leg spica (works well in 88-95% of stable fractures) Kanlic and Cruz (2007) in the community – already established Follow up in the fracture clinic arranged Discharged home with advise regarding pain management, care of spica and signs & symptoms to look out for given

Evaluation     

Time elapsed between registration and discharge was 90 minutes Adequate communication with Joey and his mother step by step explanation of the care plan was given Specialists were consulted as required and the most appropriate care/treatment provided Analgesia was offered several times and refused available in the community already established -both Joey and his mother seemed to be satisfied with the service they were receiving

Re-Evaluation 





To cast or to splint? The application of a cast causes decreased mobility and increases the likelihood of osteoporosis. Many physicians limit casting in children with O.I. as much as possible and will often apply a splint and wrap the area with an elastic bandage instead (Osteogenesis Imperfecta Foundation, 2012)

Current Treatment and Hopes for the Future 

 

 

No cure for O.I. Proper medical and orthopaedic management of the symptoms Sofield Osteomy – indicated for O.I. patients with repetitive fractures or progressive angular deformity in a weightbearing bone (Li et al, 2000) Ireland – study by Aravindan et al (2003) - Sheffield telescoping intramedullary rod system Studies in progress:   

Bone and Vibration Treatment Study O.I. Nutrition Study Bisophosphonates

References  

 

  

 

Advanced Life Group, ALSG (2011) Paediatric Advanced Life – The Practical Approach 5th Edition. West Sussex: Wiley-Blackwell. Aravindan S., Kennedy J.G., McGuinness A.J. and Taylor T. (2003) Sheffield Telescoping Intramedullary Rod System in Osteogenesis Imperfecta – An all Ireland Study. Journal of Bone and t Surgery British Volume, 85B(2), pp. 138. Brittle Bone Society (2012) Available online at www.brittlebone.org (Accessed on 21st March 2012). Farooq S. (2010) Osteogenesis Imperfecta Classification, Available Online at www.radiopaedia.org (Accessed on 20th March 2012). Forin V. (2010) Osteogenesis Imperfecta, Available Online at www.orpha.net (Accessed on 20th March 2012). Kanlic E. and Cruz M. (2007) Current Concepts in Paediatric Femur Fracture Treatment. Orthopaedics, 30(12), pp. 1015. Li Y.H., Chow W. and Leong J.C. (2000) The Sofield-Millar Operation in Osteogenesis Imperfecta – A Modified Technique. Journal of Bone and t Surgery British Volume, 82(1), pp. 11-16. National Centre for Medical Genetics (2012) Osteogenesis Imperfecta Type VIII(LEPRE1/P3H1 gene), OMIM #601905, Available Online at www.genetics.ie (Accessed on 21st March 2012). Osteogenesis Imperfecta Foundation (2012) Available online at www.oif.org (Accessed on 21st March 2012).

Thank you

Any Questions?