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Dr. Snapper presents case histories illustrating metabolic bone disease in which the skeletal changes, if present at all, remain in the background, while the prominent symptoms are related to metabolic disturbances. Five cases of hyperparathyroidism were presented as (1) nephrolithiasis, (2) renal calcinosis, (3) polyuria resembling diabetes insipidus, (4) gastrointestinal disturbance, and (5) mental confusion. The combination of multiple myeloma and amyloidosis is described in two cases. There are diagnostic difficulties even when hyperparathyroidism accompanied by von Recklinghausen's disease as osteitis fibrosa is also the sequel to rapid demineralization of bone from other causes. The biochemical syndrome of von Recklinghausen's disease (hypercalcemia, hypophosphatemia, hypercalciuria, and hyperphosphaturia) is not pathognomonic, but the diagnosis should not be made in its absence. Atypical cases of Paget's disease, postmenopausal osteoporosis and multiple myeloma, are presented which illustrate the problem of differential diagnosis.
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Some Rare Manifestations of Metabolic Bone Disease. AMA Am J Dis Child. 1952;84(6):830. doi:10.1001/archpedi.1952.02050060168011
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