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Revista Archivo Médico de Camagüey

versión On-line ISSN 1025-0255


CRISTOBO BRAVO, Tania et al. Marble osteopetrosis: report of a case with this rare disease. AMC [online]. 2015, vol.19, n.5, pp.495-503. ISSN 1025-0255.

Background: osteopetrosis includes a group of osseous diseases characterized by an increase of the bone density due to an osteoclastic dysfunction. It is also known as marble disease or Albers-Schönberg disease. Objective: to present a case with marble osteopetrosis and make the review of the topic. Clinical case: a fourteen-year-old male patient who presented bone pain that spread to the limbs, as well as severe headache that motivated a neurology study. A predominance of the left mastoid region denied the presence of articular inflammation, fever, rash, nodules or skin lesions. There were not elements of medullary hypoplasia associated to the disease of this patient. In the present physical examination no chronic disease was found. The x-rays of the patient show a widespread increase of the bone density, deformities caused by desalination and diffused bone sclerosis; all this means dense, broad bones without medullary channel which represents hypermineralized cartilages. Conclusions: the radiologic studies were positive and confirmed the diagnosis of marble osteopetrosis (benign). The use of other imaging studies was not necessary to confirm it.


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