OSTEOGENESIS IMPERFECTA

Nama Kelompok: 1. Putu Agung Wirahadi Sanjaya 2. I Made Oka Mahendra 3. Putu Feryawan Meregawa

PROGRAM PENDIDIKAN DOKTER SPESIALIS ORTHOPAEDI DAN TRAUMATOLOGI BAGIAN/SMF ORTHOPAEDI DAN TRAUMATOLOGI FK UNUD/RSUP SANGLAH DENPASAR 2014

Osteogenesis Imperfecta

History Osteogenesis Imperfecta (OI) is one of the common form of skeletal dysplasioa. OI is geneticaly congenital osteoporosiswhich result in weakness and fragility of the bones (Salter,1999). In patient with osteogenesis imperfecta (OI) there is abnormality of synthesis and structural of type I collagen(Salter,1999).. This result some defect in several organ such as ones, teeth, ligaments, sclerae and skin.APP

Pathological fractures are common in patient with OI(Salter,1999). Prevalence Osteogenesis imperfecta (OI) is one of the commonest of the genetic disorders of bone, with an estimated incidence of 1 in 20 000(Salter,1999). Type I is the most commonest (Dietz, 2003) Clinical features Clinical features of patient with OI have some variation. The most severe is the propensity to fracture generally after minor trauma and often without much pain or swelling(Solomon et al, 2010). The pathological fracture usually start to occur during infancy and less frequent after puberty. In the classic case fractures are discovered during infancy and they recur frequently throughout

childhood(Solomon et al, 2010). Callus formation is florid, so some practitioner difficult to distinguish OI with osteosarcoma(Solomon et al, 2010). Fracture healing result in abnormal bone and it remains pliable for a longtime, thus predisposing to malunion and pathological fracture. When the children with OI is 6 years old usually there are severe deformities of long bone and vertebrae. Compression fracture of vertevbrae lead to kyphoscoliosis (Solomon et al, 2010).

Patients with OI have thinner skin and hypermobile joints. They usually have blue and grey sclera because uveal pigment showing through the hypertranslucent cornea (Solomon et al, 2010). They also have discoloured teeth. In milder cases

pathological fractuyre usually aoccur when the children begin to walk. Some children have less pathological fracture but obvious deformity. In severe cases fractures may be occur before birth and the infants is ether stillborn or lives only for a few weeks. The infant with OI usually die in a few weeks due to respiratory failure, basilar indentation or intracranial haemorrhage following injury (Solomon et al, 2010).

Simple classification of clinical feature of OI divided into 4 type (Dietz,2003) .

Type I

Clinical Features Osseous fragility 9mild tomoderate) Blue Sclera Mixed hearing loss Mitra valve prolapsed

II

Osseouse fragilitry (very severe) Short calvarium Shortr trunk and limbs Small chest and protuberant abdomen Early lethaly

III

Osseous fragility (severe) Progressive deformity Short stature Normal sclera

IV

Osseous fragility Normal sclera Dentinogenesis imperfect Occasional severe deformity

X-ray finding in baby with Osteogenesis Imperfecta (Dietz,2003)

Pathology Genetic factor as a basic pathology of OI has made an alteration in structural intergrity and reduction in total amount of type I collagen (Solomon, 2010). Type I collagen is one of the major components of fibrillar connective tissue in skin,ligament and bone(Solomon, 2010). Bone formation is initiated in the normal way but it progresses abnormally. The initial tissue form a mixture of woven and lamellar bone. In worst cases the newly foring bone only consist of woven bone. There is thinning of the dermis, laxity of ligaments, increased corneal translucency and (in some cases) loss of dentin leading to tooth decay (Solomon, 2010)

Genetics Osteogensis imperfect is autosomal dominant. Autosomal recessive was confirmed by biochemical and molecular level. Chromosomal defect locations are on 17q21.31-q22 and 7q22.1. Gene involved are COLIAI (collagen type I alpha1 chain) and COLIA2 (collagen type I alpha 2chain). Almost OI caused by heterozygous mutation in type I collagen. Type I collagen is trimer. It is made of two chain pro alpha 1 and pro alpha 2 encoded by COL1A1 and COL1A2. The end result of mutation is failure of synthesis a chain or inability to be incorporated into trimeric molecule result in mild OI. The amount of collagen type I is reduced but the quality is normal (Dietz, 2003). Management The Goal of conservative treatment are preventing and treating fracture. Splintage should not be overdone because this lead to osteopenia(Solomon,2010). The most important is to prevent trauma, balance movement and good social interaction. Biphosphonat increase bone mineral density and reduce pathological fracture in severe cases. The most difficult problem are encountered in type III and IV. Immobilization must be kept to a minimum (Solomon 2010). Severe long bone deformity are common because malunion and recurrent pathological fracture

(Solomon,2010). Operative correction is very important on these cases usually at 4 or 5 years old. The operator will perform multiple osteotomy and then

intramedulary rod will be applied to realigned the bone fragment. Telescoping nail will facilitate the growing bone. Deformity in vertebral bone is common and difficult to treat. Brace application does not prevent progressive curve growth. Operative instrumentation and spinal fusion are required on these cases (Solomon, 2010).

REFERENCES 1. Dietz, F. R. (2003). Genetics for Orthopedic Surgeons: The Molecular Genetic Basis of Orthopedic Disorders. The Journal of Bone & Joint Surgery, 85(11), 2273-2273. 2. Salter, R. B. (1999). Textbook of disorders and injuries of the musculoskeletal system: an introduction to orthopaedics, fractures and joint injuries, rheumatology, metabolic bone disease, and rehabilitation. Williams & Wilkins. 3. Solomon, L., Warwick, D. J., & Nayagam, S. (2010). Apley's system of orthopaedics and fractures. CRC Press.

NAMA KELOMPOK: 1. Putu Agung Wirahadi Sanjaya 2. I Made Oka Mahendra 3. Putu Feryawan Meregawa 0