Fibrogenesis imperfecta ossium: imaging correlation in three new patients

Objective. Fibrogenesis imperfecta ossium is an extremely rare disorder tha t can easily be misdiagnosed. We retrospectively reviewed the clinical and imaging data of three confirmed cases of fibrogenesis imperfecta. Design and patients. The patients consisted of two men and one woman, rangi ng in age from 40 to 53 years. Radiography was performed in all the patient s. One patient had a 3-year follow-up of the thoracolumbar spine with conve ntional radiography and thoracolumbar magnetic resonance (MR) imaging. Open biopsy was performed in all cases, confirming the diagnosis of fibrogenesi s imperfecta ossium. Results. All our cases demonstrated "fishnet" trabecular pattern by convent ional radiographs, and a pelvis radiograph of one patient showed an equivoc al sclerosis pattern. Multiple fractures were noted in two patients. A pseu doexostosis was present in the ilium in one patient. Thoracolumbar MR imagi ng demonstrated diffuse low signal intensity within the medullary space on both T1-weighed and T2-weighted images, except for a region of increased si gnal intensity in the L1 and L2 vertebral bodies on T2-weighed images due t o edema from acute collapse. Conclusions. Although uncommon, fibrogenesis imperfecta ossium should be co nsidered in a previously healthy patient with a combination of progressive bone pain, unexplained fractures, a radiologic pattern of fishnet osteopeni a and MR imaging of low signal intensity bone marrow on both T1-weighted an d T2-weighted images.