Abstract
A 17 year old boy and a 11-year-old girl, both with negative family histories, have been observed since the age of 6 years (case 1), and of 3 months (case 2 Generalized osteoporosis without rickets was discovered at the age of 9 years (case 1) and 3 years (case 2), and persists without any sign of improvement. Two pathological fractures ocurred in the boy, 3 in the girl. They healed with hardly any callus formation. The serum phosphorus is slightly decreased in both patients, while serum calcium, alkaline phosphatase, and renal functions are normal. The boy shows a marked hypercalciuria (6 to 13mg/kg/24h.), which responds to treatment with oral sodium phosphate, but not to hydrochlorothiazide. In addition, there is a severe mental and a moderate growth retardation in both children. The boy is microcephalic. No other chronic disease could be found which would cause the bone disease. This osteoporosis does not fit into the picture of osteogenesis imperfecta nor of idiopathic juvenile osteoporosis, and might therefore be another type of demineralizing bone disease.
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Fanconi, A., Fanconi, G. AN UNUSUAL TYPE OF IDIOPATHIC OSTEOPOROSIS. Pediatr Res 8, 129 (1974). https://doi.org/10.1203/00006450-197402000-00020
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DOI: https://doi.org/10.1203/00006450-197402000-00020
