Cases reported "Osteomalacia"

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1/7. Oncogenic osteomalacia presenting as bilateral stress fractures of the tibia.

    We report on a patient with bilateral stress fractures of the tibia who subsequently showed classic biochemical features of oncogenic osteomalacia. Conventional radiographs were normal. MR imaging revealed symmetric, bilateral, band-like low-signal lesions perpendicular to the medial cortex of the tibiae and corresponding to the only lesions subsequently seen on the bone scan. A maxillary sinus lesion was subsequently detected and surgically removed resulting in prompt alleviation of symptoms and normalization of hypophosphatemia and low 1,25-(OH)2 vitamin D3. The lesion was pathologically diagnosed as a hemangiopericytoma-like tumor. patients with oncogenic osteomalacia may present with stress fractures limited to the tibia, as seen in athletes. The clue to the real diagnosis lies in paying close attention to the serum phosphate levels, especially in patients suffering generalized symptoms of weakness and not given to unusual physical activity.
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2/7. 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.
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3/7. Oncogenic osteomalacia cured by removal of an organized hematoma.

    OBJECTIVE: To describe a patient with oncogenic osteomalacia whose symptoms were rapidly resolved after surgical removal of an organized hematoma of the hip. methods: A case report is presented, including clinical and laboratory findings. The relevant literature is reviewed, and the current understanding of oncogenic osteomalacia is summarized. RESULTS: In September 1996, a 44-year-old black woman presented with a 2-year history of bone pain, progressive muscle weakness, depression, osteomalacia, and hypophosphatemia. Her condition did not improve with use of calcitriol and phosphate replacement. During the previous year, her serum phosphorus levels were low, ranging from 1.0 to 2.2 mg/dL, and the levels of serum 1,25-dihydroxyvitamin D [1,25-(OH)2D] were very low, ranging from <5 to 19.4 pg/mL (normal, 15 to 60). The serum 25-hydroxyvitamin D levels were low, ranging from 8 to 14 ng/mL (normal, 9 to 52). The higher values were noted after she had received large doses of phosphate, 1,25-(OH)2D, and vitamin D. During the previous year, her serum alkaline phosphatase levels were high, ranging from 253 to 314 U/L; serum calcium and parathyroid hormone levels were normal. The abnormalities on physical examination were obesity and a 10- by 10-cm firm, poorly demarcated mass superior to the left greater trochanter. A computed tomographic scan of this region showed a water-density fluid collection in the left buttock measuring 7.8 by 7.8 cm, consistent with a chronic hematoma. The mass was resected, and histopathologic examination revealed features of an organized hematoma with areas of myxoid changes and cartilaginous metaplasia. Postoperatively, the patient's strength improved, and the levels of serum phosphorus and 1,25-(OH)2D became supranormal. CONCLUSION: The symptoms and laboratory abnormalities of this patient with oncogenic osteomalacia promptly resolved after resection of an organized hematoma of the left hip.
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4/7. Osteomesopycnosis. A new case.

    A 10-year old, mentally and physically normally developed girl complained of back pain following an accident. Radiological findings revealed an inhomogeneous, coarse osteosclerosis along the endplates and posterior parts of the ovoid shaped vertebral bodies, in the proximal and distal femora-, proximal humeri and tibia epiphyses, and along the lateral aspects of the femoral necks. The pelvis presented a mottled appearance of the trabecular pattern at the symphysis pubis and the lateral parts of ischii and sclerosis in the acetabular region. The only laboratory abnormality was a high serum parathormone level. The family history revealed an autosomal dominant inheritance. The name proposed by Maroteaux for this skeletal disorder is osteomesopycnosis, as the lesions were localized to the spine, pelvis and sometimes proximal femur. The skull, ribs, long bones, hands and feet were not involved in the reported 12 cases. Radiographs of this patient showed in addition changes in the hand. This disease must be distinguished from atypical axial osteomalacia.
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5/7. vitamin d deficiency: a risk factor for osteomalacia in the aged.

    Deficiency of vitamin D is rare in the general population of the North American continent because of the availability of sunlight, vitamin D-fortified milk, and over-the-counter preparations containing the vitamin. Yet there are among the aged those who are at risk of developing a deficiency of the vitamin because of lack of exposure to sunlight and failure to ingest milk or vitamin supplements containing vitamin D. Four cases of vitamin D-deficiency osteomalacia are described, demonstrating the various findings in the patient history and the physical, radiologic, and laboratory evaluation. In all cases physiologic doses of the vitamin corrected the abnormality quickly and fully. vitamin d deficiency can be prevented prophylactically once the gerontologist is alert to the fact that some elderly people, who are easily identifiable by history alone, are likely to develop such deficiencies.
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6/7. Mandibular tumor-induced muscular weakness and osteomalacia.

    The case presented is that of a 26-year-old man who suffered from muscular weakness and aching pains 2 years prior to hospitalization. During that period, a tumor in the mandible was diagnosed. During the neurologic work-up to find the cause of the muscular weakness, the possibility of a metabolic bone disease was raised on the basis of oral findings. The giant-cell nature of the mandibular tumor, with destruction of the periodontium, suggested hyperparathyroidism. The giant-cell nature of the mandibular tumor, with destruction of the periodontium, suggested hyperparathyroidism. However, biochemical findings ruled out this diagnosis and led to the final diagnosis of "tumor-induced osteomalacia." Removal of the mandibular tumor caused substantial improvement in the patient's physical condition and in the biochemical picture, which confirmed the diagnosis.
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7/7. hypoparathyroidism: a possible cause of osteomalacia .

    A 17 year old man with longstanding hypocalcemia and hyperphosphatemia presented with incapacitating bone pain and progressive weakness nad bowing of the legs. The serum abnormalities were due to idiopathic hypoparathyroidism as evidenced by a decreased serum concentration of parathyroid hormone and an appropriate rise in urinary cyclic amp and phosphate excretion, and serum calcium concentration, in response to exogenously administered parathyroid extract. The serum concentration of 1,25-dihydroxycholecalciferol was appropriately decreased. The bone findings were due to osteomalacia as documented by physical findings, bone roentgenograms, and bone biopsy. Normal renal tubular function, blood pH, and serum concentration of 25-hydroxycholecalciferol and elevated serum alkaline phosphatase excluded the common causes of osteomalacia. The data are consistent with the hypothsis that lack of parathyroid hormone causes both hypocalcemia and a decreased serum concentration of 1,25-dihydroxycholecalciferol which, in turn, limit the availability of calcium and cause defective synthesis of bone matrix resulting in abnormal mineralization.
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