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Osteopetrosis

 

 AKA: Albers-Schönberg Disease = Marble Bone Disease

  • Rare hereditary disorder
  • Defective osteoclast function with failure of proper reabsorption produces sclerotic bone
  • Structurally weak

Types

  • Infantile autosomal recessive type
    • Failure to thrive
    • Premature senility in facies
    • Dental caries
    • Anemia, leukocytopenia, thrombocytopenia
    • Cranial nerve compression (optic atrophy, deafness)
    • Hepatosplenomegaly (extramedullary hematopoiesis)
    • Lymphadenopathy
    • Subarachnoid hemorrhage may occur (due to thrombocytopenia)
    • May be associated with:
      • Renal tubular acidosis
      • Cerebral calcification
    • Prognosis: survival beyond middle age is uncommon (death due to recurrent infection, massive hemorrhage, terminal leukemia)
  • Benign adult autosomal dominant type
    • 50% asymptomatic
    • Recurrent fractures
    • Mild anemia
    • Cranial nerve palsy (rarely)
    • Prognosis: normal
    • X-ray findings
      • Diffuse osteosclerosis
      • Cortical thickening with medullary encroachment
      • Erlenmeyer flask deformity = clublike long bones due to lack of tubulization + flaring of ends
      • Bone-within-bone appearance
      • "Sandwich" vertebrae=alternating sclerotic + radiolucent transverse metaphyseal lines (phalanges, iliac bones) indicate fluctuating course of disease
      • Longitudinal metaphyseal striations
      • Mandible least involved
         
  • Complications:
    • Fractures (common because of brittle bones) with abundant callus + normal healing
    • Crowding of marrow (myelophthisic anemia + extramedullary hematopoiesis)
    • Frequently terminates in acute leukemia
    • Rx: bone marrow transplant
  • DDx:
    • Heavy metal poisoning
    • Melorheostosis (limited to one extremity)
    • Hypervitaminosis D
    • Pyknodysostosis
    • Fibrous dysplasia of skull / face

 

 

From Dahnert

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