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Gaucher disease
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
Areas of focal destruction of bone, osteonecrosis, or avascular necrosis occur in the absence of acute crises, especially in the area of the femoral head [31]. A child with hip pain may be thought to have Legg-Calve-Perthes disease [32]. Pathologic fracture is common. Some degree of osteoporosis is the rule in this disease. Compression fracture of vertebral bodies is a common complication [31, 33–35], and there may be radicular or spinal cord compression or kyphoscoliotic deformity. Roentgenograms reveal osteoporosis of the spine and compression fractures [36]. Magnetic resonance imaging (MRI) is more effective than conventional radiography or computed tomography (CT) scanning in evaluating the spine and effects on the cord and also in assessing areas of avascular necrosis [37]. The most common skeletal feature of Gaucher disease is the loss of modeling and increased width that leads to the Erlenmeyer flask appearance of the femur (Figure 90.8) [38]. In addition, areas of severe loss of bone density may alternate with areas of osteosclerosis and focal infarctions.
Myeloproliferative Disorders
Published in Harold R. Schumacher, William A. Rock, Sanford A. Stass, Handbook of Hematologic Pathology, 2019
Radiological studies frequently reveal osteosclerosis. The osteosclerosis tends to be symmetric in distribution and commonly involves the vertebral bodies, pelvis, ribs, clavicles, and metaphyseal portion of the femur.
Work in progress
Published in Richard Lawson, Jonathon Porritt, Bills of Health, 2018
Richard Lawson, Jonathon Porritt
Only half the fluoride we ingest is excreted by our kidneys - the rest is deposited in our bones. This fluoride may lead to skeletal fluorosis, which resembles arthritis in its early clinical stages. Patients experience pain and stiffness of joints and movement is restricted. Radiographic examination will disclose osteosclerosis. Clinically significant skeletal fluorosis occurs when there is natural fluoride present in water supplies, mostly below 2.5 ppm.
Diagnostic value of 18-F fluorodeoxyglucose PET/CT and bone scan in Schnitzler syndrome
Published in Autoimmunity, 2019
L. Alix, A. Néel, B. Cador, A. Smail, J. Serratrice, F. Closs-Prophette, P. Jego, A. Devillers, O. Decaux
Although the diagnosis and follow-up of SchS mainly rely on clinical and biological monitoring, imaging is necessary for differential diagnosis, as well as the detection of bone lesions, frequently associated with SchS [25–27]. According to Niederhauser et al., bone lesions are found in approximatively two-thirds of patients. All 11 patients who were evaluated with a 99mTechnetium (99mTc) bone scan in a series reported by Terpos et al. showed high uptake in at least one location, most frequently increased symmetric radiotracer uptake in both distal femurs and proximal tibias. Conventional radiographs may reveal bone osteosclerosis. Computed tomography (CT) may reveal lymphadenopathy or osteosclerosis and bone magnetic resonance imaging (MRI) may show low T1 and high T2 signal abnormalities, especially in distal femurs and proximal tibias. Finally, 18F fluorodeoxyglucose (18F FDG) positron emission tomography/computed tomography (PET/CT) is often performed to rule out cancer and may show increased radiotracer uptake throughout the bone marrow or lymphadenopathy. PET/CT could provide information concerning disease activity and/or an underlying hematological malignancy at diagnosis or during follow-up, as it is a functional imaging modality. However, the value of PET/CT in SchS has not been specifically investigated. The aim of this study was to assess whether PET/CT can be informative in the diagnosis and follow-up of SchS and provide additional information relative to other imaging modalities, including bone scans.
Monogenic forms of lipodystrophic syndromes: diagnosis, detection, and practical management considerations from clinical cases
Published in Current Medical Research and Opinion, 2019
Camille Vatier, Marie-Christine Vantyghem, Caroline Storey, Isabelle Jéru, Sophie Christin-Maitre, Bruno Fève, Olivier Lascols, Jacques Beltrand, Jean-Claude Carel, Corinne Vigouroux, Elise Bismuth
At presentation, the patient was 1.83 m tall, had a bodyweight of 67 kg, and had generalized lipoatrophy, moderate muscular hypertrophy, very low fat mass (4.2%) assessed by dual-energy x-ray absorptiometry (DEXA), and a very low serum leptin level (0.34 ng/mL). There was no evidence of auto-immune disorders, and investigation for serum autoantibodies was negative. He reported that his parents were first cousins. The patient’s glycated hemoglobin (HbA1c) level was 8.3%, despite receiving high dose insulin therapy (2.7 IU/kg/day) and metformin 3 g/day. Triglycerides were increased (5.29 mmol/L) and high-density lipoprotein cholesterol was decreased (0.78 mmol/L). Incipient nephropathy was confirmed with microalbuminuria at 8.4 mg/mmol, and an estimated creatinine clearance (Modification of Diet in Renal Disease) of 83 mL/min. Whole-body bone radiographs revealed diffuse osteosclerosis and several osteolytic lesions of long bones9.
Pharmacological treatment of pediatric Gaucher disease
Published in Expert Review of Clinical Pharmacology, 2018
Punita Gupta, Gregory Pastores
Although many bone lesions may respond to ERT, osteonecrosis, osteosclerosis, and vertebral compression may be irreversible [31]. Therefore, thorough and sensitive evaluation and monitoring of Gaucher skeletal involvement are imperative in symptomatic patients and may allow for timely intervention. Vulnerable sites include the femoral head and neck and the spine where there is a higher frequency of avascular necrosis leading to potentially disabling involvement. In general, X-rays are not sufficiently sensitive to monitor disease progression, show changes too late and, if used routinely, expose the patient to excessive ionizing radiation [28]. T1 and T2 weighted MRIs should be obtained at the time of diagnosis and every 12 to 24 months in untreated patients, and every 12 months and at time of dosage change in children receiving ERT. Although MRI imaging is useful in characterizing the pattern of bone marrow involvement in late teens and adults, given the predominant ‘cellular’ marrow signal normally found in children aged <15, its utility in young children may be limited to those experiencing a bone ‘crisis’ [32]. An experienced radiologist should nevertheless be able to characterize bone marrow involvement.