Purpose This was an observational study to determine the prevalence of 25-hydroxyvitamin D (25[OH]D deficiency in our paediatric orthopaedic patient population. Methods We have measured serum 25(OH)D levels in 44 paediatric patients who presented with bone pain. None of these patients had a pre-existing diagnosis of 25(OH)D deficiency. The age of patients ranged from 11 months to 16.5 years. There were 23 female and 21 male patients. The range of diagnoses included hip pain/irritable hip (4), Blount's disease (4), developmental hip dysplasia (7), genu valgum (3), Legg Calve Perthes’ disease (6), slipped capital femoral epiphysis (11), knee pain (3), other (6). Those found to be 25(OH)D deficient underwent further biochemical investigation and were referred for paediatric endocrinology review with a view to vitamin D supplementation. Results We found 9 patients (20%) with serum 25(OH)D levels of <20ng/mL indicating 25(OH)D deficiency. 17 patients (39%) had serum 25(OH)D levels in the range 20-30ng/mL indicating possible deficiency. The remaining 18 patients (41%) had a normal level of 25(OH)D. There was no association between low serum 25(OH)D level and any specific diagnosis, nor with gender or age of patient. There was, however, a statistically significant difference between the serum 25(OH)D level in those patients with unexplained joint pain (mean 22.5ng/mL) and those with other diagnoses (mean 30.7ng/ml) (P<0.05). Conclusion Our results are consistent with other recent prevalence studies showing a concerning level of 25(OH)D deficiency among the paediatric population, and may suggest an increasing burden of disease in the coming years arising from the problem

This study aims to evaluate the development of deformity in patients with hypophosphataemic rickets and the evolution of the orthopaedic management thereof. Fifty-four patients had undergone treatment for hypophosphataemic rickets at our institution since 1995. Clinical records for all patients were obtained. Forty-one patients had long leg radiographs available that were analysed using Traumacad™ software. Statistical analysis was performed using SPSS 23 (SPSS Inc., Chicago, Illinois, USA). Of the 41 patients, 18 (43%) had no radiographic deformity. 20 have undergone bilateral lower limb surgery for persistent deformity (Mechanical Axis ≥ Zone 2). A further 3 patients are awaiting surgery. Six patients (12 limbs, 14 segments) had osteotomies and internal fixation as primary intervention: only one limb developed recurrent deformity. There were no major complications. Fourteen patients (28 limbs) had 8-plates (Orthofix, Verona) applied. In 5 limbs correction is on-going. Neutral alignment (central Zone 1) was achieved in 14/20 (70%) patients. Two patients required osteotomy and external fixation for resistant deformity. The mean rate of angular correction following 8-plate application was 0.3 and 0.7 degrees/month for the tibia and femur respectively. The mean age at 8-plate insertion was 10.25y (5–15y). Patients with more than 3 years of growth remaining responded significantly better than older patients (Fisher Exact Test, p=0.024). Guided growth was more successful in correcting valgus deformity than varus deformity (Fisher Exact Test, p=0.04). In the younger patients, diaphyseal deformity corrected as the mechanical axis improved at the rate of 0.2 and 0.7 degrees /month for the tibial and femoral shafts. Serum phosphate and alkaline phosphatase levels did not affect response to surgery or complication rate. Guided growth by means of 8-plates is a successful in addressing deformity in hypophosphataemic rickets. Surgery is best performed in patients with more than 3 years of growth remaining

Purpose of study. We hypothesised that Vitamin D deficiency could be related to SUFE in children without endocrinological abnormalities. We therefore sought to examine prevalence and severity of Vitamin D insufficiency in a cross-section of SUFE patients. Methods. Vitamin D levels were tested for at time of hospital admission for operative treatment of SUFE. Seven patients, between the months of July 2011 to November 2011, presented to our institution. All were chronic, stable slips treated with in-situ screw fixation. All patients presented in the summer months and were operated on within 3 weeks of presentation. Results. 5/7 children were boys, age range (9–15yr). Symptoms had been present for 3–12 months prior to presentation, 5/7 patients had onset of symptoms during the winter and spring months – known to accord with lowest Vitamin D serum concentrations in population studies. All seven patients had low Vitamin D concentrations (<75nmol/L), and six patients had values that were considered insufficient (<50nmol/L). All patients were of dark-skinned ethnic origin but only one had a BMI of above 25kg/m. 2. (range 21–30). Conclusion. The true prevalence of vitamin D deficiency in the general population is not known although small studies suggest that it could be relatively common, particularly in children from ethnic minorities. Deficient levels (<25nmol/L) concord with increased risk of pathological fracture but associated risks of insufficient levels (25–50nmol/L) are unknown. SUFE is known to be more common in African-American, Polynesian and Aborigine children – as is vitamin D deficiency. We are raising the possibility that Vitamin D deficiency may be a relevant associated risk factor in SUFE

Aims

It is well established that there is a strong association between Perthes’ disease and worsening socioeconomic deprivation. It has been suggested that the primary determinant driving this association is exposure to tobacco smoke. This study aimed to examine this hypothesis.

Slipped capital femoral epiphysis (SCFE) is uncommon in India and we routinely look for associated metabolic or endocrine abnormalities. In this study we investigated a possible association between vitamin D deficiency and SCFE. All children presenting with SCFE during the study period had their 25-hydroxyvitamin D levels measured as part of an overall metabolic, renal and endocrine status evaluation, which included measurement of body mass index (BMI). Vitamin D status was compared with age-, gender- and habitat-matched controls with acute trauma or sepsis presenting to our emergency department.

A total of 15 children (12 boys and three girls) with a mean age of 13 years (sd 1.81; 10 to 16) presented for treatment for SCFE during a two-year period beginning in January 2010. Renal and thyroid function was within the normal range in all cases. The mean BMI was 24.9 kg/m² (17.0 to 33.8), which was significantly higher than that of the controls (p = 0.006). There was a statistically significant difference between the mean values of 25-hydroxyvitamin D in the children with SCFE and the controls (11.78 ng/ml (sd 5.4) versus 27.06 ng/ml (sd 5.53), respectively; p < 0.001). We concluded that, along with high BMI, there is a significant association of vitamin D deficiency and SCFE in India.

Cite this article: Bone Joint J 2013;95-B:851–4.

The role of heritable thrombophilic risk factors in the pathogenesis of the Perthes’ disease is controversial. The clinical and radiological findings of Perthes’ disease may be indistinguishable from those of Gaucher’s disease, and the most common Jewish N370S Gaucher mutation is threefold greater in patients with Perthes’ disease. Familial osteonecrosis of the femoral head is associated with variant mutations of collagen type II (COL2A1 mutations). We therefore studied the potential role of genetic thrombophilia and the Gaucher and COL2A1 mutations in children with Perthes’ disease.

Genomic DNA of 119 children with radiologically-confirmed Perthes’ disease diagnosed between 1986 and 2005 was analysed for the thrombophilic polymorphisms Factor V Leiden, 677T-MTHFR and FIIG20210A. The results were compared with those of a group of 276 children without Perthes’ disease. DNA was also analysed for the Gaucher mutations N370S, G insertion (84GG), L444P, Intron 2 (IVS2+1G> A) and R496H. Enzymic assays confirmed the Gaucher disease status. Collagen (COL2A1) mutations of the 12q13 gene were also analysed. The prevalence of thrombophilic markers was similar among the 119 patients with Perthes’ disease and the 276 control subjects. The prevalence of the Gaucher mutation was consistent with Israeli population carriership data and did not confirm an earlier-claimed association with Perthes’ disease. All 199 patients were negative for the studied COL2A1 mutations.

We found no genetic association between Perthes’ disease and either Gaucher’s disease or COL2A1 mutations or increased genetic thrombophilia among our patients compared with the control group. A systematic review of case-control studies suggested that there was a positive association between Perthes’ disease and Factor V Leiden. The impact of this association upon the disease, although not consistent across the studies, remains unclear.