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Skull Base Osteopetrosis
H. Ric Harnsberger, MD; Kathryn E. Dean, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Synonyms

              • Marble bone disease
            • Definitions

              • Rare, heritable metabolic bone disease with defective bone remodeling, resulting in overproduction of immature bone
              • Autosomal recessive osteopetrosis (AROP)
                • Childhood severe form; malignant infantile osteoporosis
              • Autosomal dominant osteopetrosis (ADOP), type 2
                • Adult less severe form; Albers-Schönberg disease

            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. Ju H et al: Osteoblastic and hyperostotic craniofacial lesion detected by 99mTc-labeled methylene diphosphonate bone scintigraphy and single-photon emission computed tomography/computed tomography: a pictorial essay. Nucl Med Commun. 42(2):117-26, 2021
                                        2. Ganesh S et al: Ocular manifestations of Albers-Schoenberg disease (osteopetrosis). J Pediatr Ophthalmol Strabismus. 55(4):276, 2018
                                        3. Stattin EL et al: SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts. Sci Rep. 7(1):3012, 2017
                                        4. Szymanski M et al: Osteopetrosis of the temporal bone treated with cochlear implant. J Int Adv Otol. 11(2):173-5, 2015
                                        5. Reddy Mh R: Osteopetrosis (marble bone disease): a rare disease in children. Int J Clin Pediatr Dent. 4(3):232-4, 2011
                                        6. 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
                                        7. 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
                                        8. Castellano Chiodo D et al: Neuroimaging findings in malignant infantile osteopetrosis due to OSTM1 mutations. Neuropediatrics. 38(3):154-6, 2007
                                        9. 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
                                        10. Curé JK et al: Cranial MR imaging of osteopetrosis. AJNR Am J Neuroradiol. 21(6):1110-5, 2000
                                        11. Curé JK et al: Petrous carotid canal stenosis in malignant osteopetrosis: CT documentation with MR angiographic correlation. Radiology. 199(2):415-21, 1996
                                        12. Elster AD et al: Autosomal recessive osteopetrosis: bone marrow imaging. Radiology. 182(2):507-14, 1992
                                        13. Elster AD et al: Cranial imaging in autosomal recessive osteopetrosis. Part II. Skull base and brain. Radiology. 183(1):137-44, 1992
                                        14. Bollerslev J et al: Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis. Bone. 9(1):7-13, 1988
                                        Related Anatomy
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                                        Related Differential Diagnoses
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                                        References
                                        Tables

                                        Tables

                                        KEY FACTS

                                        • Terminology

                                          • Imaging

                                            • Top Differential Diagnoses

                                              • Pathology

                                                • Clinical Issues

                                                  TERMINOLOGY

                                                  • Synonyms

                                                    • Marble bone disease
                                                  • Definitions

                                                    • Rare, heritable metabolic bone disease with defective bone remodeling, resulting in overproduction of immature bone
                                                    • Autosomal recessive osteopetrosis (AROP)
                                                      • Childhood severe form; malignant infantile osteoporosis
                                                    • Autosomal dominant osteopetrosis (ADOP), type 2
                                                      • Adult less severe form; Albers-Schönberg disease

                                                  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. Ju H et al: Osteoblastic and hyperostotic craniofacial lesion detected by 99mTc-labeled methylene diphosphonate bone scintigraphy and single-photon emission computed tomography/computed tomography: a pictorial essay. Nucl Med Commun. 42(2):117-26, 2021
                                                                              2. Ganesh S et al: Ocular manifestations of Albers-Schoenberg disease (osteopetrosis). J Pediatr Ophthalmol Strabismus. 55(4):276, 2018
                                                                              3. Stattin EL et al: SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts. Sci Rep. 7(1):3012, 2017
                                                                              4. Szymanski M et al: Osteopetrosis of the temporal bone treated with cochlear implant. J Int Adv Otol. 11(2):173-5, 2015
                                                                              5. Reddy Mh R: Osteopetrosis (marble bone disease): a rare disease in children. Int J Clin Pediatr Dent. 4(3):232-4, 2011
                                                                              6. 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
                                                                              7. 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
                                                                              8. Castellano Chiodo D et al: Neuroimaging findings in malignant infantile osteopetrosis due to OSTM1 mutations. Neuropediatrics. 38(3):154-6, 2007
                                                                              9. 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
                                                                              10. Curé JK et al: Cranial MR imaging of osteopetrosis. AJNR Am J Neuroradiol. 21(6):1110-5, 2000
                                                                              11. Curé JK et al: Petrous carotid canal stenosis in malignant osteopetrosis: CT documentation with MR angiographic correlation. Radiology. 199(2):415-21, 1996
                                                                              12. Elster AD et al: Autosomal recessive osteopetrosis: bone marrow imaging. Radiology. 182(2):507-14, 1992
                                                                              13. Elster AD et al: Cranial imaging in autosomal recessive osteopetrosis. Part II. Skull base and brain. Radiology. 183(1):137-44, 1992
                                                                              14. Bollerslev J et al: Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis. Bone. 9(1):7-13, 1988