11/80. Gross vertebral collapse associated with long-term disodium etidronate treatment for pelvic Paget's disease.Inhibition of skeletal mineralisation is a well-recognized complication of disodium etidronate therapy that was identified in the earliest studies of its use in osteoporosis and Paget's disease. The effect is seen at lower doses in Paget's disease than in osteoporosis. Several cases of spontaneous fractures occurring in unaffected bones of Paget's patients have been reported. However, we believe the case described here is the most severe example of etidronate-induced osteomalacia published in the literature, featuring widespread vertebral collapse occurring as a consequence of nearly 10 years of uninterrupted etidronate treatment for isolated hemipelvic Paget's disease.- - - - - - - - - - ranking = 1keywords = fracture (Clic here for more details about this article) |
12/80. Craniofacial hemangiopericytoma associated with oncogenic osteomalacia: case report.A craniofacial hemangiopericytoma associated with oncogenic osteomalacia is described and the literature is reviewed. A 46 year-old male with multiple fractures and hypophosphatemia was found to have a craniofacial mass extending from the right ethmoid sinus into the right frontal lobe. Initial detection of the tumor was made with an 111Indium-pentreotide scan (Octreoscan). Gross total resection of the tumor was achieved and the patient received postoperative radiation therapy. One year after surgery, the patient remains free of tumor with significant increase in bone density and normal phosphate levels. This is the first report of a hemangiopericytoma invading the brain that was associated with paraneoplastic hypophosphatemia and osteomalacia. Also, this is the first reported detection of a hemangiopericytoma by an Octreoscan. Primary detection and secondary surveillance of hemangiopericytomas may be possible with serial Octreoscans.- - - - - - - - - - ranking = 1keywords = fracture (Clic here for more details about this article) |
13/80. Pentavalent technetium-99m DMSA uptake in pseudofractures of osteomalacia.Tc-99m MDP and Tc-99m (V) DMSA images are described from a 49-year-old woman with chronic renal insufficiency complicated by osteomalacia. Clinical, biochemical, and radiologic bone profiles were compatible with osteomalacia. osteomalacia is a condition associated with disorders in which mineralization of the organic matrix is defective. All bone lesions visualized with Tc-99m MDP also showed increased uptake of Tc-99m (V) DMSA. Tc-99m (V) DMSA accumulation has been reported in many malignant and some benign conditions. Pseudofractures in osteomalacia could be included in the spectrum of benign lesions that accumulate Tc-99m (V) DMSA.- - - - - - - - - - ranking = 5keywords = fracture (Clic here for more details about this article) |
14/80. Glomangiopericytoma causing oncogenic osteomalacia. A case report with immunohistochemical analysis.A 47-year-old woman suffered from gait disturbance due to back pain and muscle weakness. Laboratory data showed serum hypophosphatemia, elevated alkaline phosphatase, and a normal level of ionized calcium. Radiological examinations revealed multiple pathologic fractures in the ribs and pubic rami. She had had no episode of familial or any other notable disorder, and so she was initially treated with medication for adult-onset osteomalacia. However, 19 years later (when she was 66 years old), she noticed a soft-tissue tumor in her buttock. The tumor was excised. The histological features were those of glomangiopericytoma characterized by both glomus tumor-like and hemangiopericytoma-like structures. After removal of the tumor, her symptoms disappeared immediately. Laboratory data normalized 8 months later. To our knowledge, this is the first report of oncogenic osteomalacia caused by glomangiopericytoma.- - - - - - - - - - ranking = 1keywords = fracture (Clic here for more details about this article) |
15/80. Hypophosphatemic rickets presenting as recurring pedal stress fractures in a middle-aged woman.Stress fractures frequently occur from overtraining. When stress fractures recur, underlying metabolic abnormalities should be ruled out. We report a middle-aged woman in whom such an evaluation demonstrated previously undiagnosed hypophosphatemic rickets after she presented with recurring stress fractures in her feet. Treatment with phosphate and calcitriol was associated with clinical improvement that would likely not have occurred without this intervention. Any patient with recurring stress fractures should be evaluated with several screening laboratory tests, metabolic bone x-rays, and a measurement of bone mineral density.- - - - - - - - - - ranking = 8keywords = fracture (Clic here for more details about this article) |
16/80. A case of osteomalacia mimicking ankylosing spondylitis.A 39-year-old woman presented with symptoms of pain in the lumbar region and lower extremities. Physical findings included restricted movement of the lumbar spine, sacroiliac joint tenderness, positive Schober's test (10-12.5 cm), and bilaterally positive Mennel and Fabere tests. Although these symptoms and findings were suggestive of ankylosing spondylitis, osteomalacia was diagnosed with the appearance of multiple pseudofractures in her pelvic X-ray and laboratory abnormalities. All her symptoms and signs resolved in 6 months with vitamin d and calcium treatment.- - - - - - - - - - ranking = 1keywords = fracture (Clic here for more details about this article) |
17/80. diagnosis of a patient with oncogenic osteomalacia using a phosphate uptake bioassay of serum and magnetic resonance imaging.A previously healthy man with no family history of fractures presented with muscle pain, back pain and height loss. Investigations revealed hypophosphataemia, phosphaturia, undetectable serum 1,25-dihydroxyvitamin D and severe osteomalacia on bone biopsy, suggestive of a diagnosis of oncogenic osteomalacia. Thorough physical examination did not locate a tumour. Support for the diagnosis was obtained by detection of phosphate uptake inhibitory activity in a blinded sample of the patient's serum using a renal cell bioassay. On the basis of detection of this bioactivity, a total body magnetic resonance (MR) examination was performed. A small tumour was located in the right leg. Removal of the tumour resulted in the rapid reversal of symptoms and the abnormal biochemistry typical of oncogenic osteomalacia. Inhibitory activity was also demonstrated using the bioassay in serum from two other patients with confirmed or presumptive oncogenic osteomalacia, but not in serum from two patients with hypophosphataemia of other origin. This is the first case to be reported in which the diagnosis of oncogenic osteomalacia was assisted by demonstration of inhibitory activity of the patient's serum in a renal cell phosphate bioassay that provided an impetus for total body MR imaging.- - - - - - - - - - ranking = 1keywords = fracture (Clic here for more details about this article) |
18/80. A case of neuroendocrine oncogenic osteomalacia associated with a PHEX and fibroblast growth factor-23 expressing sinusidal malignant schwannoma.Oncogenic osteomalacia is a rare paraneoplastic syndrome that is characterized biochemically by hypophosphatemia and low plasma 1,25-dihydroxyvitamin D3, and clinically by osteomalacia, pseudofractures, bone pain, fatigue, and muscle weakness. We present a patient with a malignant schwannoma as the underlying cause of this disorder. A permanent cell line (HMS-97) derived from this tumor showed evidence of neuroendocrine differentiation by immunohistochemistry and of neurosecretory activity by electron microscopy. The cell line did express PHEX (phosphate-regulating gene with homologies to endopeptidases located on the X-chromosome) and FGF-23 (fibroblast growth factor-23) transcripts on northern hybridization; however, none of the known mutations from the related mendelian disorders of X-linked hypophosphatemic rickets or autosomal-dominant hypophosphatemic rickets could be detected. Tumor cell (HMS-97)-derived conditioned medium did not inhibit phosphate transport in a standard opossum kidney cell assay and in animal experiments. The medium also showed no PTH1- or PTH2-receptor-stimulating bioactivity. HMS-97 cells might be useful for further studies that aim to determine the genetic mechanism that leads to the observed PHEX and FGF-23 expression, both of which might have a direct role in the pathogenesis of oncogenic osteomalacia. In addition, these cells might be a useful tool for the investigation of neuroendocrine Schwann cell function and autoimmune peripheral nerve disease.- - - - - - - - - - ranking = 1keywords = fracture (Clic here for more details about this article) |
19/80. Bilateral symmetric polyarthralgia revealing Fanconi's syndrome.We report the case of a 45-year-old woman who presented with a six-year history of diffuse polyarthralgia responsible for major disability. She reported bilateral symmetric arthralgia in nearly every joint, as well as back pain. Muscle wasting predominating in the roots of the limbs was found. Laboratory tests showed hypocalcemia, severe hypophosphatemia, hypokalemia, alkaline phosphatase elevation, aminoaciduria, and hyperphosphaturia, with no glycosuria. Radiographs disclosed osteolysis of the pubic symphysis, multiple pelvic fractures, vertebral compression fractures, and diffuse demineralization. A bone scan visualized symmetric foci of hyperactivity in nearly all joints and fracture sites. Dramatic improvements in clinical and radiographic abnormalities were noted after six months of treatment with phosphate and calcitriol. This is a case of incomplete fanconi syndrome, with no glycosuria. The clinical presentation of fanconi syndrome can be misleading. fanconi syndrome should be borne in mind as a possible cause of polyarthralgia to avoid diagnostic delay, which in our patient led to a picture of pseudomyopathy with multiple fractures.- - - - - - - - - - ranking = 4keywords = fracture (Clic here for more details about this article) |
20/80. Decreased cutaneous vitamin d-synthesis in heavily melanized individuals: a rare cause for pathologic fractures of the hip.Painful pathological fractures of the femoral neck and the subtrochanteric region of the femur are reported in two women originating from india. After exclusion of renal or intestinal causes, laboratory data on bone metabolism, scintigraphic and radiographic examinations were characteristic for the presence of secondary hyperparathyroidism. Based on vitamin deficiency and low calcium absorption, disturbed mineralization of bone and increased osteoclastic resorption have apparently led to osteomalacia and subsequent fracturing. Fracture localization necessitated surgical fixation in one patient; conservative treatment including protected weightbearing was effective in the other women. After supplementation of calcium and vitamin D3, levels of parathyroid hormone and scintigraphic alterations returned to normal in both patients. In these two cases, pathological fractures of the hip could be attributed to the presence of secondary hyperparathyroidism based on decreased cutaneous vitamin d synthesis.- - - - - - - - - - ranking = 6keywords = fracture (Clic here for more details about this article) |
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