OSTEOPETROSIS

BY KARISHMA
 • Osteopetrosis also called marble
disease is an uncommon hereditary
disorder of bone characterized by
❑DEFINITION abnormal increase in the bone density
due to absent of physiological bone
resorption
❑PATHOGENESIS
It is a genetic defect characterized by loss of
normal balance between bone formation and resorption

Bone formation by osteoblast is normal but bone resorption

and bone remodeling by osteoclast is completely lacking

This result is formation of hypermineralized, inelastic solid

bone with profound tendency for fracture
 AUTOSOMAL
DOMINANT benign type
adult osteopetrosis
❑TYPES AUTOSOMAL
RECESSIVE malignant type
infantile osteopetrosis
ANEMIA ,THROMPOCYTOPENIA ,due to dec hemopoiesis

Deafness ,blindness, facial paralysis

Frontal bossing broad face , hypertelorism

Long bone often shortened and extremely fragile

Teeth often defective enamel and short roots eruption process can be delayed

Increase incidence of dental caries

Fractures of bone

osteomyelitis
 RADIOLOGICAL FEATURES
Increased bone density

Diffuse osteosclerosis

Increased thickening of cortex

Bone to bone appearance

Obliteration of medullary space

Vertebrae are extremely radiodense may show alternative bands known as rugger jersey sign

When the jaws are affected the density of bone may be such that the root of the teeth are nearly invisible on the
radiograph
CONTINOUS...
• Vertebrae are
extremely radiodense may show
alternative bands known as
rugger jersey sign
• When the jaws are affected the
density of bone may be such that
the root of the teeth are nearly
invisible on the radiograph
MICROSCOPIC FEATURES
• Primarily woven bone
• Central core of cartilage with dense and
irregular bony trabeculae
• Deficient osteoclast
• Reduced marrow space
ELECTRON MICROSCOPIC FEATURES

Osteoclast lack ruffled borders

Scattered rough areas of abnormal ossification

Narrowing and reduce in numbers of haversian canal

Many irregular fractures line are present

 TREATMENT

Bone marrow Supportive therapies like Antibiotics

transplantation repeated blood transfusion
 CASE REPORT
• A boy aged 1 years and 15 days, presented mainly with anemia,
thrombocytopenia, hepatosplenomegaly, cough, and shortness of breath.
Physical examination showed slightly pale complexion and bilateral
conjunctiva Imaging showed: slightly enlarged lymph nodes of the liver and
spleen;
• ; generally increased density of the craniofacial bones, pelvis, both ends of
the ribs, bilateral humerus, ulna, radius, femur, tibia, and fibula.
• The boundary between the medullary cavity and the cortical bone was
unclear
• . Radiographs showed bilaterally increased calcaneus and talar bone
density. The long bones of the extremities were increased in density, the
medullary cavity was unclear,
• . Neurological examination revealed neuromotor retardation, and right
hearing loss. Bone marrow biopsy showed obvious calcification of
trabecular bone, intertrabecular fibrosis. Some bone marrow
hematopoietic cells were significantly squeezed.
ANSWER
• The diagnosis of osteopetrosis was also based on the skeletal
radiograph.The patients in our study, imaging examinations consisting
of computerized tomography (CT) scans and x-rays revealed a general
increase of bone density involving the skull, vertebrae and limbs. And
marrow biopsy results in patient showed partial calcification of
trabecular bone
THANKS