Cases reported "Osteomalacia"

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1/26. Tumor-induced osteomalacia and symptomatic looser zones secondary to mesenchymal chondrosarcoma.

    Tumor-induced osteomalacia is a rare clinical entity that is associated with soft-tissue or skeletal tumors. We present a case report of a patient with a chest wall mesenchymal chondrosarcoma who presented with bone pain. The patient had skeletal changes in the femoral neck and fibula consistent with osteomalacia and laboratory values suggesting phosphate diabetes. The patient was treated with tumor resection and phosphate supplementation with reversal of the signs and symptoms of osteomalacia. Tumor-induced osteomalacia is vitamin-D-resistant and often reversed by complete removal of the tumor. Most commonly, the causative tumors are of vascular, mesenchymal, or fibrous origin. The osteomalacia is associated with bone pain, muscle weakness, and radiographic changes. Tumor-induced humoral factors have been implicated in causing the osteomalacia, but the definite etiology has yet to be determined. Current treatment includes complete tumor resection and electrolyte supplementation.
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ranking = 1
keywords = femoral neck, neck
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2/26. reflex sympathetic dystrophy in hypophosphataemic osteomalacia with femoral neck fracture: a case report.

    We report a male patient who presented with suspicion of skeletal metastases based upon an abnormal 99-mTc bone scan, which showed increased uptake at both femoral heads, left femoral neck, and several ribs. The images also suggested reflex sympathetic dystrophy, subcapital fracture of the left femur, and rib fractures. A diagnosis of hypophosphataemic osteomalacia was finally made.
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ranking = 5
keywords = femoral neck, neck
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3/26. Axial osteomalacia with sacroiliitis and moderate phosphate diabetes: report of a case.

    We report a new case of axial osteomalacia diagnosed in a 51-year-old white Caucasian male, made particular by its association with sacroiliitis, positive hla-b27 antigen, and also moderate phosphate diabetes responsible for a decreased appendicular bone mass. The diagnosis was suspected when X-ray evaluation showed increased density and coarse trabeculation mainly involving the pelvis and spine. Dual energy X-ray absorptiometry confirmed the elevated bone density at the lumbar spine (T score: 1.92) contrasting with a decreased bone mass at the femoral neck (T score: -2.33). The diagnosis was confirmed by histomorphometry of the iliac crest showing marked thickening of the cortices (2190 microns /- 0.574, N = 780 /- 40) and an increased trabecular bone volume (33.24%, N = 14 /- 3). Osteoid parameters were also markedly increased with an osteoid volume of 2.1% (N = 1.2 /- 0.5) and a mean osteoid thickness of 28.7 microns (N = 13 /- 2.5), with a normal bone fluoride content (0.082%, N < 0.10). bone resorption as assessed on bone biopsy and by the measurement of markers of bone remodeling (serum procollagen type I C-terminal telopeptide and 24 hr urinary cross-laps to creatinine ratio) was increased. This latter finding was not necessarily due to axial osteomalacia and could be the consequence of moderate phosphate diabetes. The patient was treated with calcitriol which was promptly discontinued due to gastrointestinal symptoms and replaced by calcidiol without any significant effect on the low back pain.
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ranking = 1
keywords = femoral neck, neck
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4/26. Posttransplant bone disease: a case illustrating dramatic improvements in bone density with vitamin D replacement therapy.

    Although bisphosponates are proposed as first-line treatment for posttransplant bone disease they are not optimal in all situations. A kidney transplant recipient developed hypercalcemia from mobilization of extraskeletal calcium. He had low serum parathyroid hormone and vitamin D; high calcium excretion; and normal calcium intake. Bone biopsy revealed severe osteomalacia. Bisphosphonates, used in the early treatment of acute hypercalcemia, were not indicated to treat osteomalacia. However, over several months serum calcium declined sufficiently to allow treatment of the bone disease with oral calcitriol. Dual-energy radiographic absorptiometry over the next 2 years documented dramatic improvements in bone density (percent of young-normal controls) : from 63 to 85%, at the lumbar spine; from 38 to 67%, at the femoral neck. This response to treatment could not have been achieved with an antiresorptive strategy. Optimal management of posttransplant bone disease requires a diagnostic approach, which considers all plausible contributing factors.
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ranking = 1
keywords = femoral neck, neck
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5/26. Biomarkers and imaging in non-malignant and malignant osteomalacia.

    Deoxypyridinium (DPD) cross-links are a specific parameter for collagen type i degradation. We report the longitudinal tracking of DPD in relation to other bone markers and imaging techniques in a patient with osteomalacia and secondary hyperparathyroidism from reduced light exposure due to attire. This patient was first admitted for diffuse skeletal pain. x-rays showed general demineralization and Looser's transformation zones in the neck of the left femur. MRI examinations of the pelvis and the proximal femora demonstrated bilateral signs of acute sacroiliitis, as well as edema-like lesions in the femoral heads and necks bilaterally. The baseline parathyroid hormone level was 8 times higher than the normal upper limit, whereas 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D levels were significantly reduced. A 7-fold increase in free urinary DPD and a 17-fold increase in bone-specific alkaline phosphatase (bone-AP) were also measured. Percutaneous transiliac bone biopsy revealed markedly increased osteoidosis. osteomalacia was diagnosed due to chronically reduced sun exposure caused by restrictive attire, and cholecalciferol substitution therapy was begun. After a follow-up of 28 weeks, non-specific parameters of bone turnover (parathyroid hormone, total alkaline phosphatase, serum calcium and serum phosphate) had normalized, while DPD, as a specific bone degradation marker, and bone-AP, as a bone formation parameter, both remained elevated. This example underlines the validity of DPD and bone-AP as indicators of increased bone metabolism: not only were they the parameters with the highest baseline deviation, but they were also the last to normalize.
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ranking = 0.0014080640361645
keywords = neck
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6/26. Somatic mutations of the MEN1 gene and microsatellite instability in a case of tertiary hyperparathyroidism occurring during high phosphate therapy for acquired, hypophosphatemic osteomalacia.

    Somatic mutations of the MEN type 1 (MEN1) gene were recently shown to be responsible for tumorigenesis in 13-26% of sporadic, nonfamilial primary hyperparathyroidism. However, it is unknown whether these mutations are also involved in tumorigenesis of parathyroid glands occurring during high phosphate therapy for hypophosphatemic rickets or osteomalacia. A male patient with adult-onset, hypophosphatemic osteomalacia had been treated with 1alpha-OHD3 and oral phosphate for 13 yr when tertiary hyperparathyroidism developed. After total resection of four enlarged parathyroid glands and autotransplantation of a hyperplastic gland, the patient has continued to do well for the last 2 yr. sequence analysis of the coding exons of MEN1 gene revealed a 36-bp deletion with a 2-bp insertion (exon 2) in the right upper parathyroid gland accompanied with loss of heterozygosity at 11q13 locus and a heterozygous mutation of 2-bp deletion (AG) in exon 10 in the right lower gland, in which microsatellite instability was also found. No MEN1 gene mutation was detected in the other two hyperplastic parathyroid glands or in the peripheral blood. These findings indicate that MEN1 gene mutations contributed to tumorigenesis of the right upper parathyroid gland in this case of phosphate-induced tertiary hyperparathyroidism. Very recently a bone tumor was found in the right femoral neck, and the tumor (chondroblastoma) was resected.
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ranking = 1
keywords = femoral neck, neck
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7/26. octreotide scanning in the detection of a mesenchymal tumour in the pubic symphysis causing hypophosphataemic osteomalacia.

    Oncogenic hypophosphataemic osteomalacia is a rare condition. The causative tumour is often difficult to locate. Primary tumours have been reported in the head and neck, skeleton, and soft tissue. octreotide scanning was used in this case and detected a mesenchymal tumour in the pubic symphysis.
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ranking = 0.00070403201808227
keywords = neck
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8/26. Dramatic improvement of BMD following vitamin D therapy in a bone marrow transplant recipient.

    bone marrow transplantation is now an established successful treatment for several hematologic malignancies. Bone loss is among the long-term adverse effects of this procedure. The underlying pathophysiology is believed to be multifactorial. We report a case of osteoporosis in a young patient who underwent allogenic bone marrow transplantation for acute lymphoblastic leukemia that was complicated by intestinal graft-versus- host disease. Her bone density measurement showed T-scores of -3.46 and -2.47 in the lumbar spine and femoral neck respectively. On evaluation, she had low normal serum calcium, low urine calcium, low 25- hydroxyvitamin D, elevated total and bone specific alkaline phosphatases, and elevated parathyroid hormone. Following treatment with calcifediol, the biochemical markers normalized and the bone mineral density increased by 88% in the lumbar spine and almost 60% in the femoral neck, both of which were above the mean for her age group. We believe that the graft-versus-host disease caused a malabsorptive state that led to vitamin d deficiency and possible resistance and consequent osteomalacia.
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ranking = 2
keywords = femoral neck, neck
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9/26. 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.
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ranking = 1
keywords = femoral neck, neck
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10/26. Bilateral simultaneous combined intra- and extracapsular femoral neck fracture secondary to nutritional osteomalacia: a case report.

    A case of bilateral simultaneous combined extra- and intracapsular femoral neck fractures is presented in an adult Asian male patient suffering from nutritional osteomalacia. The radiological and biochemical findings were classical for osteomalacia with Looser's zones affecting the shoulder and the pelvic girdle. Treatment consisted of bed rest and calcium and vitamin-D replacement. The fractures healed without surgery. A high index of suspicion for nutritional osteomalacia among Asian immigrants especially among the low socio-economic classes is required in the Western community. early diagnosis and treatment prevents chronic disability and skeletal deformity.
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ranking = 18.932801541375
keywords = femoral neck fracture, femoral neck, neck fracture, neck
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