From a Mass to Nutritional Rickets: A Case Study

Excerpt

A three-year-old girl presented with a genu varum and swelling at the distal end of the left femur. Radiography showed diaphyseal lesions with blurry, and irregular bone pattern, misshapen cortices with periosteal doubling with significant bowing and bone geodes without signs of malignancy (Fig. 1). MRI showed metaphyseal-diaphyseal lesion in the distal left femur with heterogeneous infiltration of the medullary cavity. Biopsy revealed diffuse, highly vascularized tumor proliferation with multinucleated tumor cells suggestive of hyperparathyroidism. Blood tests showed serum calcium levels of 1.93 mmol/L, phosphorus levels of 0.38 mmol/L, parathyroid hormone levels of 516 pg/mL and vitamin D deficiency with levels below 8 ng/mL. The diagnosis of stage 3 vitamin D deficiency rickets with secondary hyperparathyroidism was made. She was started on intramuscular vitamin D3 supplementation and oral calcium supplementation.

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