link
Bookmarks
Osteopetrosis
H. Ric Harnsberger, MD
To access 4,300 diagnoses written by the world's leading experts in radiology, please log in or subscribe.Log inSubscribe
0
0
7
0

KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Synonyms

              • Marble bone disease, Albers-Schönberg disease
              • OPTB: Autosomal recessive osteopetrosis (types 1-7)
              • OPTA: Autosomal dominant osteopetrosis (types 1-2)
            • Definitions

              • Rare heritable metabolic bone disease with defective bone remodeling resulting in overproduction of immature bone
                • Autosomal recessive osteopetrosis (AROP): Childhood (malignant) form; severe osteopetrosis
                • Autosomal dominant osteopetrosis (ADOP): Adult (benign) form; less severe osteopetrosis

            IMAGING

            • General Features

              • Radiographic Findings

                • CT Findings

                  • MR Findings

                    • Imaging Recommendations

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          • Gross Pathologic & Surgical Features

                            • Microscopic Features

                              CLINICAL ISSUES

                              • Presentation

                                • Demographics

                                  • Natural History & Prognosis

                                    • Treatment

                                      DIAGNOSTIC CHECKLIST

                                      • Consider

                                        Selected References

                                        1. Turgut M et al: Autosomal recessive osteopetrosis as an unusual cause of hydrocephalus, extensive calcification of tentorium cerebelli, and calvarial hyperostosis. J Neurosurg Pediatr. 5(4):419-21, 2010
                                        2. Fotiadou A et al: Type II autosomal dominant osteopetrosis: radiological features in two families containing five members with asymptomatic and uncomplicated disease. Skeletal Radiol. 38(10):1015-21, 2009
                                        3. Del Fattore A et al: Genetics, pathogenesis and complications of osteopetrosis. Bone. 42(1):19-29, 2008
                                        4. Castellano Chiodo D et al: Neuroimaging findings in malignant infantile osteopetrosis due to OSTM1 mutations. Neuropediatrics. 38(3):154-6, 2007
                                        5. Bénichou O et al: Mapping of autosomal dominant osteopetrosis type II (Albers-Schönberg disease) to chromosome 16p13.3. Am J Hum Genet. 69(3):647-54, 2001
                                        6. Curé JK et al: Cranial MR imaging of osteopetrosis. AJNR Am J Neuroradiol. 21(6):1110-5, 2000
                                        7. Curé JK et al: Petrous carotid canal stenosis in malignant osteopetrosis: CT documentation with MR angiographic correlation. Radiology. 199(2):415-21, 1996
                                        8. Elster AD et al: Autosomal recessive osteopetrosis: bone marrow imaging. Radiology. 182(2):507-14, 1992
                                        9. Elster AD et al: Cranial imaging in autosomal recessive osteopetrosis. Part II. Skull base and brain. Radiology. 183(1):137-44, 1992
                                        Related Anatomy
                                        Loading...
                                        Related Differential Diagnoses
                                        Loading...
                                        References
                                        Tables

                                        Tables

                                        KEY FACTS

                                        • Terminology

                                          • Imaging

                                            • Top Differential Diagnoses

                                              • Pathology

                                                • Clinical Issues

                                                  TERMINOLOGY

                                                  • Synonyms

                                                    • Marble bone disease, Albers-Schönberg disease
                                                    • OPTB: Autosomal recessive osteopetrosis (types 1-7)
                                                    • OPTA: Autosomal dominant osteopetrosis (types 1-2)
                                                  • Definitions

                                                    • Rare heritable metabolic bone disease with defective bone remodeling resulting in overproduction of immature bone
                                                      • Autosomal recessive osteopetrosis (AROP): Childhood (malignant) form; severe osteopetrosis
                                                      • Autosomal dominant osteopetrosis (ADOP): Adult (benign) form; less severe osteopetrosis

                                                  IMAGING

                                                  • General Features

                                                    • Radiographic Findings

                                                      • CT Findings

                                                        • MR Findings

                                                          • Imaging Recommendations

                                                            DIFFERENTIAL DIAGNOSIS

                                                              PATHOLOGY

                                                              • General Features

                                                                • Gross Pathologic & Surgical Features

                                                                  • Microscopic Features

                                                                    CLINICAL ISSUES

                                                                    • Presentation

                                                                      • Demographics

                                                                        • Natural History & Prognosis

                                                                          • Treatment

                                                                            DIAGNOSTIC CHECKLIST

                                                                            • Consider

                                                                              Selected References

                                                                              1. Turgut M et al: Autosomal recessive osteopetrosis as an unusual cause of hydrocephalus, extensive calcification of tentorium cerebelli, and calvarial hyperostosis. J Neurosurg Pediatr. 5(4):419-21, 2010
                                                                              2. Fotiadou A et al: Type II autosomal dominant osteopetrosis: radiological features in two families containing five members with asymptomatic and uncomplicated disease. Skeletal Radiol. 38(10):1015-21, 2009
                                                                              3. Del Fattore A et al: Genetics, pathogenesis and complications of osteopetrosis. Bone. 42(1):19-29, 2008
                                                                              4. Castellano Chiodo D et al: Neuroimaging findings in malignant infantile osteopetrosis due to OSTM1 mutations. Neuropediatrics. 38(3):154-6, 2007
                                                                              5. Bénichou O et al: Mapping of autosomal dominant osteopetrosis type II (Albers-Schönberg disease) to chromosome 16p13.3. Am J Hum Genet. 69(3):647-54, 2001
                                                                              6. Curé JK et al: Cranial MR imaging of osteopetrosis. AJNR Am J Neuroradiol. 21(6):1110-5, 2000
                                                                              7. Curé JK et al: Petrous carotid canal stenosis in malignant osteopetrosis: CT documentation with MR angiographic correlation. Radiology. 199(2):415-21, 1996
                                                                              8. Elster AD et al: Autosomal recessive osteopetrosis: bone marrow imaging. Radiology. 182(2):507-14, 1992
                                                                              9. Elster AD et al: Cranial imaging in autosomal recessive osteopetrosis. Part II. Skull base and brain. Radiology. 183(1):137-44, 1992