Searching for pale, getting rickets

A 36-year-old woman presented with her 2-year child in the out-patient orthopaedic department of our hospital. She complained that her little boy was unable to walk properly without support. The child looked intelligent, aware of what was happening around him. However he was hypotonic with muscular weakness, cranial sutures were still widened and dental eruption was delayed. No other abnormal findings were found at the physical examination. Urine and essential blood tests were normal except for an increase in the serum alkaline phosphatase (1,253 IU/ml). The X-ray performed to his legs showed radiologic alteration at the epiphyseal growth plate due to decreased calcification of the hypertrophic zone and inadequate mineralization of the primary spongiosa. The orthopaedist asked to visit also the 15-year-old sister who was accompanying the little infant. The young woman had skeletal pain and most significantly a ‘‘rachitic rosary’’ due the prominence of the costochondral junctions.