RICKETS AND MYOPATHY CURED BY REMOVAL OF A NONOSSIFYING FIBROMA OF BONE

[摘要] A 9-year-old boy presented with progressive muscle weakness, waddling gait, and diminishing growth velocity of 16 months' duration.Radiographs demonstrated active rickets and a lytic lesion of the distal radius. Normocalcemia (9.6 mg/100 ml), hypophosphatemia (1.7 mg/100 ml), and elevated alkaline phosphatase (31.6 Bodansky units) suggested X-linked resistant rickets but bone structure in films taken prior to age 7 was normal. No other family members had hypophosphatemia. Glomerular function was normal; generalized aminoaciduria and glycosuria were absent, but urinary glycine was elevated. Normal serum parathyroid hormone levels were suppressed by induced hypercalcemia. Chemical improvement and radiological healing were not obtained on vitamin D2 in doses to 200,000 units/day, but occurred promptly, with complete symptomatic relief, when oral phosphate, 1,250 mg daily, was added. The lytic radial lesion, initially not excised because of its benign radiological appearance and proximity to the metaphysis, responded to therapy with increasing sclerosis. Nonetheless, even after three years of medical treatment, chemical rickets exacerbated when vitamin D, but not phosphate, was omitted. When the patient was 12 years old, all therapy was discontinued and the lesion, a benign, nonossifying fibroma of bone, was excised. Within four days all biochemical indices of rickets returned to normal, except for the hyperglycinuria which declined more slowly over three weeks. One year after surgery the patient was without clinical or biochemical evidence of recurrent disease. The data suggest the acquired, hypophosphatemic rickets with myopathy was induced by elaboration in the tumor of a humoral substance, not parathyroid hormone, the nature of which is unknown.

[学科分类] 儿科学