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Osteopetrosis
A. Carlson Merrow, Jr., MD, FAAP
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          TERMINOLOGY

          • Synonyms

            • Marble bone disease
          • Definitions

            • Heterogeneous group of genetic disorders characterized by ↑ bone density due to impaired bone resorption by osteoclasts
              • Osteopetrosis, autosomal dominant type 1 (ADO1)
                • Not true osteopetrosis (mechanism poorly understood)
                  • LRP5 mutation → high bone mass
                • Universal osteosclerosis but marked at cranial vault while spine almost unaffected
                • Low fracture rate
              • Osteopetrosis, autosomal dominant type 2 (ADO2)
                • Albers-Schönberg disease, osteoclast rich
                • Most common form of osteopetrosis
                • CLCN7 mutation in most → ↓ of chloride channel 7
                • Universal osteosclerosis but predominantly involving spine, pelvis, & skull base; mandibular osteomyelitis
              • Osteopetrosis, autosomal recessive (ARO)
                • > 50% due to mutation of TCIRG1 → infantile malignant osteopetrosis (IMO)
                  • Macrocephaly, progressive blindness > deafness, hepatosplenomegaly, recurrent infections, severe anemia, fractures
                • Other forms of ARO range from mild to severe
                  • Variable degrees of growth retardation, hypocalcemia, hematological & visual impairment, other CNS symptoms

          IMAGING

          • General Features

            • CT Findings

              • MR Findings

                • Ultrasonographic Findings

                  • Angiographic Findings

                    • Nuclear Medicine Findings

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          • Gross Pathologic & Surgical Features

                            • Microscopic Features

                              CLINICAL ISSUES

                              • Presentation

                                • Demographics

                                  • Natural History & Prognosis

                                    • Treatment

                                      Selected References

                                      1. Boulet C et al: Sclerosing bone dysplasias: genetic, clinical, and radiology update of hereditary and non-heriditary disorders. Br J Radiol. 20150349, 2016
                                      2. Simanovsky N et al: Extending the spectrum of radiological findings in patients with severe osteopetrosis and different genetic backgrounds. Pediatr Blood Cancer. 63(7):1222-6, 2016
                                      3. Hashemi Taheri AP et al: Radiologic resolution of malignant infantile osteopetrosis skeletal changes following hematopoietic stem cell transplantation. Pediatr Blood Cancer. 62(9):1645-9, 2015
                                      4. Orchard PJ et al: Hematopoietic stem cell transplantation for infantile osteopetrosis. Blood. 126(2):270-6, 2015
                                      5. Saigal A et al: Recurrent osteomyelitis of the mandible in osteopetrosis: a common complication of an uncommon disease. BMJ Case Rep. 2015, 2015
                                      6. Zheng LC et al: 99Tcm-MDP imaging of osteopetrosis: case report. Medicine (Baltimore). 94(22):e929, 2015
                                      7. Aggarwal S: Skeletal dysplasias with increased bone density: evolution of molecular pathogenesis in the last century. Gene. 528(1):41-5, 2013
                                      8. Bollerslev J et al: Autosomal dominant osteopetrosis revisited: lessons from recent studies. Eur J Endocrinol. 169(2):R39-57, 2013
                                      9. Gonen KA et al: Infantile osteopetrosis with superimposed rickets. Pediatr Radiol. 43(2):189-95, 2013
                                      10. Sobacchi C et al: Osteopetrosis: genetics, treatment and new insights into osteoclast function. Nat Rev Endocrinol. 9(9):522-36, 2013
                                      11. Driessen GJ et al: Long-term outcome of haematopoietic stem cell transplantation in autosomal recessive osteopetrosis: an EBMT report. Bone Marrow Transplant. 32(7):657-63, 2003
                                      12. Steward CG: Neurological aspects of osteopetrosis. Neuropathol Appl Neurobiol. 29(2):87-97, 2003
                                      13. Whyte MP et al: Bisphosphonate-induced osteopetrosis. N Engl J Med. 349(5):457-63, 2003
                                      14. Cleiren E et al: Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. Hum Mol Genet. 10(25):2861-7, 2001
                                      15. Gerritsen EJ et al: Autosomal recessive osteopetrosis: variability of findings at diagnosis and during the natural course. Pediatrics. 93(2):247-53, 1994
                                      16. Elster AD et al: Autosomal recessive osteopetrosis: bone marrow imaging. Radiology. 182(2):507-14, 1992
                                      Related Anatomy
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                                      Related Differential Diagnoses
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                                      References
                                      Tables

                                      Tables

                                      KEY FACTS

                                      • Terminology

                                        • Imaging

                                          • Top Differential Diagnoses

                                            • Pathology

                                              TERMINOLOGY

                                              • Synonyms

                                                • Marble bone disease
                                              • Definitions

                                                • Heterogeneous group of genetic disorders characterized by ↑ bone density due to impaired bone resorption by osteoclasts
                                                  • Osteopetrosis, autosomal dominant type 1 (ADO1)
                                                    • Not true osteopetrosis (mechanism poorly understood)
                                                      • LRP5 mutation → high bone mass
                                                    • Universal osteosclerosis but marked at cranial vault while spine almost unaffected
                                                    • Low fracture rate
                                                  • Osteopetrosis, autosomal dominant type 2 (ADO2)
                                                    • Albers-Schönberg disease, osteoclast rich
                                                    • Most common form of osteopetrosis
                                                    • CLCN7 mutation in most → ↓ of chloride channel 7
                                                    • Universal osteosclerosis but predominantly involving spine, pelvis, & skull base; mandibular osteomyelitis
                                                  • Osteopetrosis, autosomal recessive (ARO)
                                                    • > 50% due to mutation of TCIRG1 → infantile malignant osteopetrosis (IMO)
                                                      • Macrocephaly, progressive blindness > deafness, hepatosplenomegaly, recurrent infections, severe anemia, fractures
                                                    • Other forms of ARO range from mild to severe
                                                      • Variable degrees of growth retardation, hypocalcemia, hematological & visual impairment, other CNS symptoms

                                              IMAGING

                                              • General Features

                                                • CT Findings

                                                  • MR Findings

                                                    • Ultrasonographic Findings

                                                      • Angiographic Findings

                                                        • Nuclear Medicine Findings

                                                          DIFFERENTIAL DIAGNOSIS

                                                            PATHOLOGY

                                                            • General Features

                                                              • Gross Pathologic & Surgical Features

                                                                • Microscopic Features

                                                                  CLINICAL ISSUES

                                                                  • Presentation

                                                                    • Demographics

                                                                      • Natural History & Prognosis

                                                                        • Treatment

                                                                          Selected References

                                                                          1. Boulet C et al: Sclerosing bone dysplasias: genetic, clinical, and radiology update of hereditary and non-heriditary disorders. Br J Radiol. 20150349, 2016
                                                                          2. Simanovsky N et al: Extending the spectrum of radiological findings in patients with severe osteopetrosis and different genetic backgrounds. Pediatr Blood Cancer. 63(7):1222-6, 2016
                                                                          3. Hashemi Taheri AP et al: Radiologic resolution of malignant infantile osteopetrosis skeletal changes following hematopoietic stem cell transplantation. Pediatr Blood Cancer. 62(9):1645-9, 2015
                                                                          4. Orchard PJ et al: Hematopoietic stem cell transplantation for infantile osteopetrosis. Blood. 126(2):270-6, 2015
                                                                          5. Saigal A et al: Recurrent osteomyelitis of the mandible in osteopetrosis: a common complication of an uncommon disease. BMJ Case Rep. 2015, 2015
                                                                          6. Zheng LC et al: 99Tcm-MDP imaging of osteopetrosis: case report. Medicine (Baltimore). 94(22):e929, 2015
                                                                          7. Aggarwal S: Skeletal dysplasias with increased bone density: evolution of molecular pathogenesis in the last century. Gene. 528(1):41-5, 2013
                                                                          8. Bollerslev J et al: Autosomal dominant osteopetrosis revisited: lessons from recent studies. Eur J Endocrinol. 169(2):R39-57, 2013
                                                                          9. Gonen KA et al: Infantile osteopetrosis with superimposed rickets. Pediatr Radiol. 43(2):189-95, 2013
                                                                          10. Sobacchi C et al: Osteopetrosis: genetics, treatment and new insights into osteoclast function. Nat Rev Endocrinol. 9(9):522-36, 2013
                                                                          11. Driessen GJ et al: Long-term outcome of haematopoietic stem cell transplantation in autosomal recessive osteopetrosis: an EBMT report. Bone Marrow Transplant. 32(7):657-63, 2003
                                                                          12. Steward CG: Neurological aspects of osteopetrosis. Neuropathol Appl Neurobiol. 29(2):87-97, 2003
                                                                          13. Whyte MP et al: Bisphosphonate-induced osteopetrosis. N Engl J Med. 349(5):457-63, 2003
                                                                          14. Cleiren E et al: Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. Hum Mol Genet. 10(25):2861-7, 2001
                                                                          15. Gerritsen EJ et al: Autosomal recessive osteopetrosis: variability of findings at diagnosis and during the natural course. Pediatrics. 93(2):247-53, 1994
                                                                          16. Elster AD et al: Autosomal recessive osteopetrosis: bone marrow imaging. Radiology. 182(2):507-14, 1992