In order to demonstrate the role of bone mineral density (BMD) measurement and bone scans in the management of patients with osteomalacia, radioisotope bone scintigraphy using technetium-99m methylene diphosphonate (MDP) and BMD measurements of the lumbar spine and femur by means of dual X-ray absorptiometry (DXA) were performed at the time of diagnosis and 6 months after therapy in 26 Saudi patients (17 females and nine males). Their mean age was 13.5 years (range, 5-16). BMD measurements were compared with those of normal Saudi subjects matched for age and sex. Bone scan showed an increase in tracer uptake throughout the skeleton ("superscan") in all children and demonstrated multiple stress fractures in eight. The mean BMD for the lumbar spine was 0.53 g/cm2 (Z-score, -3.1) and for the femoral neck 0.55 g/cm2 (Z-score, -2.8). Repeated bone scan and BMD after 6 months of therapy with oral vitamin D, calcium and proper sun exposure demonstrated a significant increase (P<0.001) in BMD and healing of pseudofractures. In conclusion, as a non-invasive method with minimal radiation exposure, measurements of BMD in children with osteomalacia are to be recommended in the initial assessment of the severity of osteopenia and in the follow-up to monitor the response to therapy. Bone scintigraphy is valuable in demonstrating the site and severity of stress fractures.

During the period between December 1988 and February 1995, a total of 279,482 newborn infants were screened in the regional neonatal screening program for congenital hypothyroidism (CH) in Riyadh province, Saudi Arabia. Eighty-one infants were confirmed to have CH giving an incidence of 1 in 3,450. Variable congenital anomalies, other than those of the thyroid gland, were present in 16 (19.8%). The anomalies most frequently encountered were congenital heart defects (7), unclassified multiple congenital anomalies (5) and Down’s syndrome (2). The results of our study confirm this association, and emphasize the need to search for such anomalies in infants born with CH. Nationwide studies, however, on birth defects in the general population and those associated with CH are still needed to help us understanding the role of local genetic and environmental factors.

To assess the usefulness of bone scintigraphy in the detection of bone and joint abnormalities in brucellosis and show the pattern and frequency of such abnormalities at scintigraphy, bone scans in 214 patients with brucellosis and musculoskeletal symptoms were retrospectively analyzed. Bone scans were abnormal at a total of 319 sites in 196 patients (91.6%); 102 patients (47.7%) had multiple skeletal abnormalities. Plain radiographs were abnormal in 52 of 214 patients (24.3%). The sacroiliac joints were the most commonly affected site (142 patients [72.4%]); bilateral involvement of these joints occurred in 92 patients (46.9%). The sternoclavicular joints were affected in 32 patients (16.3%); costovertebral junctions, eight patients (4.1%); and symphysis pubis, three patients (1.5%). It is concluded that scintigraphy is sensitive in detection of skeletal brucellosis and should be performed when screening patients with brucellosis and musculoskeletal symptoms.

Neonatal screening for congenital hypothyroidism using cord serum thyroid-stimulating hormone (TSH) was initiated in Najran health region in September 1990. A total of 30810 newborn infants were screened by April 1995. Of the 24 infants with abnormal thyroid function tests on recall, 22 had permanent primary congenital hypothyroidism (incidence; 1:1400) and in two male siblings transient congenital hypothyroidism (incidence; 1:15400) was proved on follow-up. There was a significantly higher incidence of dyshormonogenesis. Eight (57 per cent) of the 14 infants who were adequately studied thyroid scan revealed ectopic glands with increased 99mTc uptake, while thyroid ectopy and aplasia were present only in three (22 per cent) infants each. Furthermore, goiter was evident clinically in two other patients.