Cases reported "Osteomalacia"

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11/192. The treatment of Paget's bone disease with sodium ethidronate.

    Of 58 patients with Paget's disease treated with disodium ethane-1-hydroxy-1,1-diphosphonate (EHDP) in doses of 20 and 10 mg/kg/day, a group of 20 patients with the oligostotic form of the disease showed a significantly greater incidence of complications, such as worsening of bone pains, when compared with a group of 38 patients with the polyostotic disease (P less than 0.05). The group of 32 patients that received 20 mg/kg/day showed a greater although not significant incidence of clinical complications than the group of 26 patients treated with 10 mg/kg/day. Bone biopsies performed in one polyostotic and three oligostotic cases who suffered episodes of bone pain worsening during treatment with 20 mg/kg/day disclosed a severe osteomalacia. Both groups treated with 20 and 10 mg/kg showed a highly significant decrease of urinary hydroxyproline (THP) excretion and of serum alkaline phosphatase (P less than 0.01) after two and six months of treatment although the trend comparison between doses was not significant. It is suggested that the dose of EHDP should be related to the extent of the disease.
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12/192. Nutritional osteomalacia: substantial clinical improvement and gain in bone density posttherapy.

    A 52-yr-old white female presented with worsening low back and hip pain, associated with lower limb proximal muscle weakness and a waddling gait. Her laboratory evaluation revealed hypocalcemia, hypophosphatemia, a very low 25-hydroxyvitamin D level of less than 5 ng/mL, and a bone mineral density in the osteoporotic range. Her laboratory studies were consistent with osteomalacia, although this diagnosis was not established by histomorphometry. She avoided dairy products, spent little time outdoors, and when she went out, she covered her face, arms, and legs. She was on no medication. Her workup for malabsorption including sprue was negative. She was treated with calcium plus high-dose vitamin D 600,000 IU intramuscularly twice witihin 2 mo and had an impressive clinical improvement. Her difficulty with ambulation improved within 1 wk of start of therapy. Her bone mineral density increased by 40% at the spine and 35% at the hip at 4 mo of therapy, by 63% and 39% at 10 mo, and by 62% and 52% at 15 mo at these sites, respectively. Treatment of osteomalacia is extremely rewarding, with dramtic clinical improvement and normalization of bone mineral density.
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13/192. Hypophosphatemic osteomalacia demonstrated by Tc-99m MDP bone scan: a case report.

    Hypophosphatemic osteomalacia, a familial or rarely acquired disorder, is characterized biochemically by hypophosphatemia, decreased renal tubular reabsorption of phosphate, decreased intestinal absorption of calcium, and normal serum calcium. This report concerns a rare case of hypophosphatemic osteomalacia of unknown cause that was shown on Tc-99m MDP bone scanning.
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14/192. 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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15/192. Metabolic studies in congenital vitamin d deficiency rickets.

    Congenital rickets in 3 newborns of mothers with advanced nutritional osteomalacia, healed with maternal breast milk feeding when mothers alone were given calcium supplements and 7.5 mg of intravenous D2 and the mother baby pair protected from sunlight. Maternal plasma biochemistry indicated more severe vitamin d deficiency compared to their newborns (intrauterine foetal priority). The first dose of 7.5 mg of vitamin D3 and calcium supplements to mother healed osteomalacia but did not appear to heal the rickets of their breast fed infants (extrauterine maternal priority for vitamin D). A second dose given at 3 months interval healed the rickets in their infants and the biochemistry of the mother and baby returned towards normal. Congenital rickets developed when maternal bone mineral and vitamin D stores had been completely exhausted. Raised IPTH levels in the newborn suggested that foetal parathyroids were responsive to hypocalcaemic stimulus.
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16/192. osteomalacia and carcinoma of prostate with major redistribution of skeletal calcium.

    A case of hypophosphataemic osteomalacia occurring in association with a carcinoma of prostate is described. Although only palliative treatment to the primary tumour was possible, worthwhile remission of bone symptoms, due to osteomalacia, was achieved with pharmacological doses of vitamin D. The presence of extensive skeletal metastases modified the radiological features of osteomalacia. Major alterations in the distribution of calcium within the skeleton were observed during a period when total body calcium remained unaltered. This observation may be of relevance to other cases in which osteosclerotic metastases develop.
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17/192. Phosphaturic mesenchymal tumor, mixed connective tissue variant (oncogenic osteomalacia).

    A case of tumor-induced phosphaturic osteomalacia in a 54 year old man is reported. The patient was admitted because of progressive muscle spasms with pain and weakness in the bilateral thighs. Laboratory data showed hypophosphatemia, decreased tubular resorption of phosphate (TRP), a low 1,25-dihydroxyvitamin D level, and a high serum alkaline phosphatase level. Radiologic examinations revealed multiple lesions of osteomalacia in the ribs, and a small mass in the lower posterior mediastinum. After removal of the tumor, clinical symptoms disappeared and hypophosphatemia, decreased TRP, and the 1,25-dihydroxyvitamin D level were corrected. Microscopical examination revealed that the tumor was composed of mature adipose tissues, osseous tissues, and primitive stromal zones including osteoclast-like giant cells, non-mineralized woven bone, and various sized blood vessels. Patho-physiologic observations suggested that the tumor secreted some humoral substances inhibiting 25-hydroxyvitamin D-1 alpha-hydroxylase activity, renal phosphate resorption, and parathyroid hormone production.
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18/192. Development of tertiary hyperparathyroidism after phosphate supplementation in oncogenic osteomalacia.

    Oncogenic osteomalacia is a rare paraneoplastic syndrome. It is characterized by bone pain, muscle weakness, gait disturbance, fractures and skeletal deformities. hypophosphatemia, diminished renal phosphate reabsorption, decreased 1,25 dihydroxy Vitamin D and elevated alkaline phosphatase are the biochemical hallmarks of this disorder. Most tumors are of mesenchymal origin. We report the case of a 39-year-old woman with oncogenic osteomalacia caused by osteosarcoma of the right scapula which was unrecognized for several years. She subsequently developed tertiary hyperparathyroidism after treatment with oral phosphate and Vitamin D. This case illustrates that oncogenic osteomalacia may persist for many years before the tumor is discovered. This is because the tumors are frequently very small and are in obscure locations. The uniqueness of this case is the coexistence of hyperparathyroidism and oncogenic osteomalacia. Five other cases have been reported up to date. All patients had received phosphate supplement, ranging from 10 to 14 years prior to their diagnosis. Interestingly, our patient was on the treatment for only 2 years. The proposed mechanism is that exogenous phosphate stimulates parathyroid activity through sequestration of calcium.
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19/192. 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.
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20/192. 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.
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