Osteopetrosis(albergs schoberg disease

osteopetrosis by de jameel

1. Osteopetrosis ( Albergs-schoberg disease;marble bone disease) DR JAMEEL KIFAYATULLAH LECTURER KCD PESHAWAR

2. osteopetrosis Hereditary skeletal disorder characterised by marked increase in bone density Bone density is due to defect in remodelling caused by failure of normal osteoclast function Bone not resorbed due to abnormal osteoclast function Defective osteoclast resorption with continued bone formation and endochondral ossification results thickening of cortical bone and cancellous bone sclerosis.

3. Defects in proteins necessary for osteoclast function H + -ATP ase proton pump chloride channel Carbonic anhydrase II

4. TYPES 1) INFANTILE : i ) malignant ii) intermediate iii) transient 2) AD ULT OSTEOPETROSIS

5. INFANTILE OSTEOPEtROSIS

6. INFANTILE OSTEOPETROSIS Severe disease at birth or early infancy MALIGNANT OSTEOPETROSIS MIOP is autosomal recessive Diffusely sclerotic skeleton Initial signs: Normocytic anemia with hepatosplenomegaly ( extramedullary hematopoiesis ) Increase susceptibility to infection( granulocytopenia )

7. Malignant infantile osteopetrosis X-ray showing increased density in all the bones (bone in bone appearance)

8. INFANTILE OSTEOPETROSIS Facial deformity(broad face, hypertelorism,sunb nose, frontal bossing) Dalayed tooth eruption Narrowing of skull foramina (failure or resorption and remodelling )  presing on cranial nervesoptic nerve atrophy,blindness,deafness,facial paralysis. Pathological # Osteomyelitis jaw(complication of tooth extraction)

9. Radiographic findings infantile osteopetrosis R/G distinction b/w cortical and cancellous bone lost Root of teeth difficult to visualise (density of surrounding bone)

10. INTERMEDIATE OSTEOPETROSIS Less severe variant of infantile osteopetrosis Affected patients asymptomatic at birth Fractures exhibited by the end of first decade. Rarely marrow failure/ hapatosplenomegaly

11. Transient osteopetrosis Radiographic evidence of diffuse sclerosis Marrow failure Resolve without specific therapy Most affected patients return to normal without sequelae

12. ADULT OSTEOPETROSIS Less severe manifestations Autosomal dominnant trait---benign osteopetrosis Sclerosis of axial skeleton Long bones—little/no defect 40% patients—asymptomatic marrow failure rare

13. Adult osteopetrosis Dental radigraphs – reveal a diffuse increased radiopacity of medullary portions of bone Symptomatic patients—bone pain Two major variants: with CN compression :rarely fractures occur 2) without CN compression : fractures common.mandible osteoptrosis : complications:fractures and osteomyelitis after tooth extraction

14. HISTOPATHOLOGICAL FEATURES SEVERAL PATTERNS OF ABNORMAL ENDOSTEAL BONE FORMATION:

15. ENDOSTEUM   endosteum  (plural endostea ) is a thin vascular membrane of connective tissue that lines the inner surface of the bony tissue that forms the medullary cavity of long  bones . This  endosteal surface is usually resorbed during long periods of malnutrition, resulting in less cortical thickness.

16. TREATMENT Adult osteopetrosis -mild severity-long term survival Infantile osteopetrosis -poor prognosis-most deaths during first decade of life Bone marrow transplantation only hope for cure Other therapies : interferron gama-1b incombination with calcitriol -reduce bone mass,decrease infections, lowers nerve compressions Others: corticosteroid administration(to increase circulating RBCS and platelets) Parathormone Macrophage colony stimulating factor Erythropoietin Limiting calcium intake

17. Supportive measures Transfusions Antibiotics Osteomyelitis of jaws: drainage,debridement,culture with sensitivity,appropriate antibiotic therapy and reconstruction if necessary HBO RECALCITRANT CASES