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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
- Not true osteopetrosis (mechanism poorly understood)
- 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
- > 50% due to mutation of TCIRG1 → infantile malignant osteopetrosis (IMO)
- Osteopetrosis, autosomal dominant type 1 (ADO1)
- Heterogeneous group of genetic disorders characterized by ↑ bone density due to impaired bone resorption by osteoclasts
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
- Boulet C et al: Sclerosing bone dysplasias: genetic, clinical, and radiology update of hereditary and non-heriditary disorders. Br J Radiol. 20150349, 2016
- 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
- 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
- Orchard PJ et al: Hematopoietic stem cell transplantation for infantile osteopetrosis. Blood. 126(2):270-6, 2015
- Saigal A et al: Recurrent osteomyelitis of the mandible in osteopetrosis: a common complication of an uncommon disease. BMJ Case Rep. 2015, 2015
- Zheng LC et al: 99Tcm-MDP imaging of osteopetrosis: case report. Medicine (Baltimore). 94(22):e929, 2015
- Aggarwal S: Skeletal dysplasias with increased bone density: evolution of molecular pathogenesis in the last century. Gene. 528(1):41-5, 2013
- Bollerslev J et al: Autosomal dominant osteopetrosis revisited: lessons from recent studies. Eur J Endocrinol. 169(2):R39-57, 2013
- Gonen KA et al: Infantile osteopetrosis with superimposed rickets. Pediatr Radiol. 43(2):189-95, 2013
- Sobacchi C et al: Osteopetrosis: genetics, treatment and new insights into osteoclast function. Nat Rev Endocrinol. 9(9):522-36, 2013
- 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
- Steward CG: Neurological aspects of osteopetrosis. Neuropathol Appl Neurobiol. 29(2):87-97, 2003
- Whyte MP et al: Bisphosphonate-induced osteopetrosis. N Engl J Med. 349(5):457-63, 2003
- 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
- Gerritsen EJ et al: Autosomal recessive osteopetrosis: variability of findings at diagnosis and during the natural course. Pediatrics. 93(2):247-53, 1994
- Elster AD et al: Autosomal recessive osteopetrosis: bone marrow imaging. Radiology. 182(2):507-14, 1992
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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
- Not true osteopetrosis (mechanism poorly understood)
- 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
- > 50% due to mutation of TCIRG1 → infantile malignant osteopetrosis (IMO)
- Osteopetrosis, autosomal dominant type 1 (ADO1)
- Heterogeneous group of genetic disorders characterized by ↑ bone density due to impaired bone resorption by osteoclasts
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
- Boulet C et al: Sclerosing bone dysplasias: genetic, clinical, and radiology update of hereditary and non-heriditary disorders. Br J Radiol. 20150349, 2016
- 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
- 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
- Orchard PJ et al: Hematopoietic stem cell transplantation for infantile osteopetrosis. Blood. 126(2):270-6, 2015
- Saigal A et al: Recurrent osteomyelitis of the mandible in osteopetrosis: a common complication of an uncommon disease. BMJ Case Rep. 2015, 2015
- Zheng LC et al: 99Tcm-MDP imaging of osteopetrosis: case report. Medicine (Baltimore). 94(22):e929, 2015
- Aggarwal S: Skeletal dysplasias with increased bone density: evolution of molecular pathogenesis in the last century. Gene. 528(1):41-5, 2013
- Bollerslev J et al: Autosomal dominant osteopetrosis revisited: lessons from recent studies. Eur J Endocrinol. 169(2):R39-57, 2013
- Gonen KA et al: Infantile osteopetrosis with superimposed rickets. Pediatr Radiol. 43(2):189-95, 2013
- Sobacchi C et al: Osteopetrosis: genetics, treatment and new insights into osteoclast function. Nat Rev Endocrinol. 9(9):522-36, 2013
- 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
- Steward CG: Neurological aspects of osteopetrosis. Neuropathol Appl Neurobiol. 29(2):87-97, 2003
- Whyte MP et al: Bisphosphonate-induced osteopetrosis. N Engl J Med. 349(5):457-63, 2003
- 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
- Gerritsen EJ et al: Autosomal recessive osteopetrosis: variability of findings at diagnosis and during the natural course. Pediatrics. 93(2):247-53, 1994
- Elster AD et al: Autosomal recessive osteopetrosis: bone marrow imaging. Radiology. 182(2):507-14, 1992
