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Osteopetrosis = Marble Bone Disease = Albert Schonberg Disease

  1. It is a diaphyseal dysplasia characterized by failure of bone resorption due to functional deficiency of osteoclast. The bone contained increased number of osteoclasts but these don’t resorb bone as evidenced by absence of ruffled borders & clear zones and are unable to respond to PTH.
  2. Due to functional deficiency of osteoclasts, calcified chondroid (cartilage) and primitive woven bone persists down into metaphysis and diaphysis causing osteosclerosis and increased brittleness of bones.
  3. Inheritance depends on form of disease:
  4. Malignant osteopetrosis (congenital form) is autosomal recessive and Osteopetrosis tarda (adolescence / adult form) is Autosomal dominant.
  5. Clinical Presentation
    1. Autosomal dominant benign or tarda osteopetrosis is often diagnosed in adult asymptomatic patients. It may present with mild anemia, pathological fractures premature osteoarthritis, and rarely osteomyelitis of mandible. 
    2. Autosomal recessive malignant (congenital) osteopetrosis clinically presents at birth or in early infancy because of Obliteration of marrow cavity by bony overgrowth resulting in inability of bone marrow to participate in hematopoiesis. Pancytopenia develops resulting in abnormal bleeding, easy bruising, progressive anemia, and failure to thrive,Severe infections.
    3. Extramedullary hematopoesis is seen causing hepato splenomegaly.
  6. Bony overgrowth of cranial foramen
    1. Cranial nerve palsies causing blindness & deafness
    2. Optic or facial nerve palsy
    3. Papilledema, nystagmus, exophthalmus.
  7. Fragile brittle bones
    1. Pathological fractures
    2. Radiological hallmark is increased radiopacity of bones. There is no
    3. distinction between cortical & cancellous bone, because intramedullary canal is filled with bone.
    4. Endobones (os in os or bone with in bone appearance) and rugger jersey spine.
  8. Treatment is bone marrow transplant, high dose calcitriol and gamma interferon.
Marble bones appearance / Bone in bone appearance

Erlenmeyer flask

Rugger Jersy Spine

Erlenmeyer flask deformity

Mnemonic TOP DOG:
  • Thalassemia
  • Osteopetrosis
  • Pyle’s disease
  • Diaphyseal aclasis
  • Osteodysplasty
  • Gaucher’s

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