ABSTRACT
Spinal pseudoarthrosis is an uncommon complication in patients with advanced ankylosing spondylitis which consists in destruction of the discovertebral junction. Two cases of spinal pseudoarthrosis at the thoracolumbar level after a spontaneous fall are reported. Because of the neural arch involvement and the spinal cord compression a stabilization was required. Different imaging techniques are complementaries in the study of this entity, conventional radiographs and computed tomography may depicte bone abnormalities, but magnetic resonance allows a correct evaluation of spinal cord and soft tissue involvement.
Subject(s)
Pseudarthrosis/etiology , Spinal Fractures/etiology , Spondylitis, Ankylosing/complications , Humans , Lumbar Vertebrae , Magnetic Resonance Imaging , Male , Middle Aged , Pseudarthrosis/diagnosis , Spinal Fractures/diagnosis , Thoracic VertebraeABSTRACT
La pseudoartrosis vertebral es una espondilodiscitis aséptica que aparece como complicación tardía de la espondilitis anquilosante. Dos pacientes presentaron este proceso de destrucción discovertebral después de una caída espontánea. Los dos asociaron manifestaciones neurológicas por compresión medular, interviniéndose quirúrgicamente el primero. En el estudio de estas lesiones, las diferentes técnicas de imagen se complementan. Con radiología simple se puede identificar en algunos casos la afección discovertebral. La tomografía axial computerizada delimita mejor estas lesiones y revela la fractura del arco posterior. Por último, el estudio con resonancia magnética aporta sensibilidad para la detección precoz, descarta la existencia de partes blandas paravertebrales que puedan ser de otro origen e identifica la compresión del cordón medular. (AU)
Subject(s)
Middle Aged , Male , Humans , Spondylitis, Ankylosing , Thoracic Vertebrae , Spinal Fractures , Pseudarthrosis , Magnetic Resonance Imaging , Lumbar VertebraeABSTRACT
In Gaucher disease, a genetic deficiency in the activity of the lysosomal enzyme beta-glucocerebrosidase (acid beta-glucosidase) causes monocytes and macrophages to store excessive amounts of glucocerebroside in lysosomes. The resulting distended cells are called Gaucher cells, and the pathology associated with this condition stems from the accumulation of Gaucher cells in organ systems. The skeletal manifestations are probably the most disabling aspect of the disease. Patients commonly experience bone pain, some suffer bone crises, and up to 20% have impaired mobility. Radiological findings include Erlenmeyer flask deformity, osteopenia, osteosclerosis, osteonecrosis, fractures and bone marrow infiltration. Findings from the Gaucher Registry show that nearly all patients with Gaucher disease have radiological evidence of skeletal involvement, and the majority have a history of serious skeletal complications. Skeletal involvement follows three basic processes: focal disease (irreversible lesions such as osteonecrosis and osteosclerosis), local disease (reversible abnormalities adjacent to heavily involved marrow such as cortical thinning and long bone deformity) and generalized osteopenia. Infarctions are involved in some of the skeletal manifestations, but the mechanisms causing high rates of bone turnover and failure of remodelling are not known. The availability of a beta-glucocerebrosidase-deficient mouse model of Gaucher disease with long-term survival should help elucidate the skeletal pathology in Gaucher disease and may ultimately lead to improved management of skeletal complications.
Subject(s)
Bone Diseases/etiology , Gaucher Disease/complications , Animals , Biomarkers , Bone Diseases/diagnosis , Bone Diseases, Metabolic/diagnosis , Bone Diseases, Metabolic/etiology , Bone and Bones/abnormalities , Gaucher Disease/enzymology , Glucosylceramidase/deficiency , Humans , Magnetic Resonance Imaging , Mice , Osteonecrosis/diagnosis , Osteonecrosis/etiology , Osteosclerosis/diagnosis , Osteosclerosis/etiology , Prevalence , RegistriesABSTRACT
In Gaucher disease, enzyme replacement therapy usually reduces liver and spleen volumes and improves haematological abnormalities within 1 year. In contrast, skeletal manifestations of Gaucher disease are thought to respond more slowly. For example, decreased bone marrow glycolipid infiltration and increased bone mineral density have been reported to take up to 3-4 years of treatment. In this report, we present recent studies using T1- and T2-weighted MRI and quantitative chemical shift imaging that demonstrate decreases in abnormal glucocerebroside infiltration and increases in normal fat content of bone marrow within the first year of treatment. There was no obvious relationship between age, gender, splenectomy status or genotype and the response of bone marrow to therapy. Although the dose of enzyme replacement therapy may be related to bone marrow response, no significant relationship was demonstrated in this report. Long-term enzyme replacement therapy induces continued degradation of Gaucher cell deposits, reconversion of fat marrow and increased bone mineral density. This treatment is also associated with improved or non-progressive bone symptoms and functional status in most adult patients, and it prevents the new occurrence of bone pain and bone crisis in nearly all patients. The development of more sensitive, quantitative imaging methods will help to evaluate disease severity better and to assess the response to therapy.
