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Minerva Ortopedica e Traumatologica 2005 June;56(3):139-43


language: Italian

Albert-Schonberg disease: clinical, radiological manifestations and osteomyelitis in 2 patients

Cussotti S. 1, Andreacchio A. 1, Ingrosso G. 1, Barale M. 1, Ghione M. 2

1 UAO Ortopedia e Traumatologia Ospedale Regina Margherita Azienda Ospedaliera OIRM-S. Anna, Torino 2 UAO Traumatologia CTO Azienda Ospedaliera CTO-Maria Adelaide-CRF, Torino


Osteopetrosis, also called Albers Schonberg disease by the author who was the first to describe it, forms part of the group of sclerosing osteochondrodysplasias. Three forms are recognised, one a malignant infantile form and the other two more tardive, with a more favourable prognosis. The genetic origin (gene CLCN7) of type II has recently been mapped. The radiographic aspect is highly characteristic, dominated by osteosclerosis and by the re-organisation of the metaphysis and the diaphysis of the long bones with the club deformities and vertebral bodies that take on the typical sandwich appearance. The complications due to bone sclerosis are represented by the pressure on the cranic nerves, the sometimes severe anaemisation and osteomyelitis that prevalently affect the maxillary and mandibular joint and present necrotic sequelae. Pathological fractures of the long bones linked to the loss of elasticity are frequently observed. Two typical cases are described. In the first, the pathological fracture of the femur was followed by the osteomyelitic process of the same, which was resolved with surgical and antibiotic treatment. The second presents the skeletal morphological appearance typical of the disease. The more serious complications described above were not observed in either of the cases. From the review of cases the importance quickly emerges of carrying out thorough diagnostic investigation employing the systemic study of the skeleton in the event of repeated fractures in paediatric age in order to evidence cases of osteopetrosis, as clear-cut familiarity is not always described.

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