Osteopetrosis is a rare hereditary bone disorder characterized by abnormally dense bone due to a defect in bone remodeling. There are several types including infantile, intermediate, and adult forms. Infantile osteopetrosis is the most severe type and can cause blindness, deafness, and susceptibility to infections in early infancy due to abnormal osteoclast function. Diagnosis is made through x-rays and bone biopsies, and treatment may include bone marrow transplantation while supportive care focuses on managing infections and anemia.

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.

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

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

6. INFANTILE OSTEOPEtROSIS

7. 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)

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

10. 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)

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

13. 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

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

15. 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

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

17. HISTOPATHOLOGICAL FEATURES
• SEVERAL PATTERNS OF ABNORMAL
ENDOSTEAL BONE FORMATION:

18. 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 endostealsurface is
usually resorbed during
long periods of
malnutrition, resulting in
less cortical thickness.

19. 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

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