Radiological signs in osteopetrosis
DOI:
https://doi.org/10.18203/2349-3291.ijcp20230094Keywords:
Osteopetrosis, Osteoclastogenesis, Marble bone diseaseAbstract
Osteopetrosis, or marble bone disease, is a rare genetic metabolic bone disease initially described by Albers-Schönberg in 1904. Osteopetrosis includes a clinically heterogeneous group of conditions characterized by increased bone density due to a defect in bone resorption by osteoclasts. The osteoclasto-genesis as well as the osteoclastic activity may be distorted. Clinical symptoms of osteopetrosis vary greatly in their presentation and severity as the spectrum ranges from the neonatal onset with life-threatening complications to incidental findings of osteopetrosis on radiographs. Diagnosis is based on clinical and radiographic evaluation, confirmed by bone biopsy and genetic testing. Treatment depends on the symptoms and severity of the disease and requires a multidisciplinary team approach.
References
Stark Z, Savarirayan R. Osteopetrosis. Orphanet J Rare Dis. 2009;4(1):1-2.
De Cuyper E, De Cuyper C, Willems L, Casselman J, Dhooge I, Van Hoecke H. Hearing Loss in Malignant Infantile Osteopetrosis: A Case-Based Review. J Int Adv Otol. 2021;17(6):551.
Föger-Samwald U, Dovjak P, Azizi-Semrad U, Kerschan-Schindl K, Pietschmann P. Osteoporosis: Pathophysiology and therapeutic options. Excli J. 2020;19:1017.
Gillani S, Abbas Z. Malignant infantile osteopetrosis. J Ayub Med College Abbottabad. 2017;29(2):350-2.
Penna S, Villa A, Capo V. Autosomal recessive osteopetrosis: mechanisms and treatments. Dis Models Mech. 2021;14(5):dmm048940.
Yadav S, Chalise S, Chaudhary S, Shah GS, Gupta MK, Mishra OP. Osteopetrosis in two siblings: two case reports. BMC Res Notes. 2016;9(1):1-4.
Raman Gangadha RS, Prakashchandra SP, Rupal P. Osteopetrosis with Typical Radiological Findings: Rare Case Report. Int J Anat Radiol Surtg. 2015;4:36-8.
Boulet C, Madani H, Lenchik L, Vanhoenacker F, Amalnath DS, De Mey J et al. Sclerosing bone dysplasias: genetic, clinical and radiology update of hereditary and non-hereditary disorders. Bri J Radiol. 2016;89(1062):20150349.
Arumugam E, Harinathbabu M, Thillaigovindan R, Prabhu G. Marble bone disease: a rare bone disorder. Cureus. 2015;7(10).
Bedi RS, Goel P, Pasricha N, Goel A. Osteopetrosis-A rare entity with osteomyelitis. Ann Maxillofacial Sur. 2011;1(2):155.
Sözen T, Özışık L, Başaran NÇ. An overview and management of osteoporosis. Eur J Rheumatol. 2017;4(1):46.
García CM, García MA, García RG, Gil FM. Osteomyelitis of the mandible in a patient with osteopetrosis. Case report and review of the literature. J Maxillofacial Oral Surg. 2013;12(1):94-9.
