Combined gait analysis and radiologic examination in children with X-linked hypophosphatemia

Autre financement : Kyowa Kirin PharmaBackground: X-linked hypophosphataemia causes bone deformities and gait abnormalities that tend to worsen with age in the absence of appropriate treatment. However, doctors do not currently use quantitative tools to characterize these symptoms and their possible interactions. Methods: Radiographs and 3D gait data from 43 non-surgical growing children with X-linked hypophosphataemia were acquired prospectively. Data from age-matched typically developing children were used to form the reference group. Subgroups based on radiological parameters were compared with each other and with the reference population. Linear correlations between radiographic parameters and gait variables were examined. Finding: X-linked hypophosphatemic patients differed from the control group in pelvic tilt, ankle plantarflexion, knee flexion moment and power. High correlations with tibiofemoral angle were found for trunk lean, knee and hip adduction, and knee abduction moment. The Gait Deviation Index was below 80 for 88% of the patients with a high tibiofemoral angle (varus). Compared to other subgroups, varus patients had augmented trunk lean (+3°) and knee adduction (+10°) and decreased hip adduction (-5°) and ankle plantarflexion (-6°). Femoral torsion was associated with alterations in rotation at the knee, and hip. Interpretation: Gait abnormalities induced in X-linked hypophosphataemia have been described in a large cohort of children. Links between gait alterations and lower limb deformities were found, with varus deformities standing out. Since bony deformities appear when X-linked hypophosphatemic children start walking and have been found to alter gait patterns, we suggest that combining radiology with gait analysis may improve the clinical management of X-linked hypophosphataemia

One-stage circumferential limb ring constriction release and direct circular skin closure in amniotic band syndrome: a 14-case series

International audienceThe aim of the present study was to report results of direct circular suture after 1-stage circumferential resection of limb ring constriction in amniotic band syndrome. A multicentre retrospective study included 14 patients with amniotic band syndrome (mean age, 13.3 months) operated on between 2004 and 2019 by circumferential release of ≥1 ring constriction. Assessment was based on limb function and clinical scar aspect on the POSAS and Vancouver scales. Mean follow-up was 3.9 years. There were no scar-related, vascular or neurologic complications, postoperatively or at last follow-up. POSAS and Vancouver scores were satisfactory. One-stage circumferential release with direct closure is a simple technique that provides satisfactory functional and esthetic results

Quantitative analysis of lower limb and pelvic deformities in children with X-linked hypophosphatemic rickets

International audienceIntroductionX-linked hypophosphatemia (XLH) rickets mainly causes leg deformities in children that can get worse as they grow. We hypothesized that quantifying the bone parameters will help to document and monitor these deformities in children with XLH.MethodsThirty-five growing children affected by XLH were included in this cross-sectional study. Biplanar radiographs were taken with an EOS system allowing 3D reconstructions of the pelvis and legs. Sixteen geometric parameters were calculated for the legs and pelvis. A control group of 40 age-matched patients was used to define the reference values for these geometric parameters.Results For the legs, significant differences (p < 0.05) appeared between the XLH patients and the control group in the neck-shaft angle, femur/tibia length ratio and HKS. Among the 70 legs in the XLH group, 23 were in genu varum, 25 were in genu valgum and 22 were straight. There were significant differences between the genu varum and genu valgum subgroups in the femoral mechanical angle and the HKS. A strong correlation was found between the femoral mechanical angle and tibiofemoral angle (r² = 0.73) and between the femoral mechanical angle and HKS (r²=0.69) The sacral slope and acetabular anteversion were significant different from the reference values. DiscussionQuantitative radiological parameters derived from 3D reconstructions show that the deformities in XLH patients are 1) mainly in but not limited to the femoral shaft; 2) highly variable from one person to another. Some of these radiological parameters may be useful for the diagnosis and monitoring of XLH patients

Prospective Analysis of Muscle Adiposity in Children With X-linked Hypophosphatemic Rickets vs Control Children

Abstract Context Children with X-linked hypophosphatemic (XLH) rickets have muscle weakness that severely impairs their function. Intermuscular and intramuscular adipose tissue (IMAT and intraMAT, respectively) may contribute to this muscle weakness. Objective This work aimed to compare IMAT and intraMAT in XLH children vs typically developing (TD) children. Methods A prospective, monocentric cohort study was conducted of XLH (n = 11; aged 10.3 years [6-17]) and TD children (n = 22; aged 10.2 years [5-15.5]). All children underwent magnetic resonance imaging of the lower limbs; IMAT and intraMAT percentages were calculated after manual contouring of each muscle of the thigh and the deep fascia at mid-thigh level. Results XLH children were comparable in age but shorter and heavier than TD children (P = .001 and P = .03, respectively). They had smaller muscle length and volume than TD children (P &lt; .001) but there was no statistically significant difference in muscle cross-sectional area between the groups (P = .833). The total percentage of IMAT was higher in XLH children (8.66% vs 3.60% in TD children; P &lt; .0001). In addition, though the total percentage of intraMAT did not differ significantly (12.58% and 10.85% in XLH and TD children, respectively; P = .143) intraMAT was statistically significantly higher in XLH children than TD children in 4 of the 13 muscles studied. Conclusion Our results show that IMAT is higher in young children with XLH, independently of obesity and overweight. Further, these results will facilitate both the early prevention of functional and metabolic consequences of the increase in adipose tissue in XLH children

Management of ischiopagus twin separation with a focus on W–S incision design

BackgroundIschiopagus us twins share parts of the spine, central nervous system, gastrointestinal and genitourinary tracts with various degrees of severity. Their separation is a surgical challenge. From the perspective of the plastic surgeon, one of the straightforward technical problems of conjoined twin separation is the coverage of the large residual parietal defects determined by the initial skin incisions.MethodsHere we report the cases of three sets of separated ischiopagus twins and describe the skin incision design. All patients were females aged 4–6 months at the time of surgery. Semi-automatic segmentation and innovative 3D visualization methods were used and surgery planning was based on MRI and CT-scan data.ResultsThe incision design allowed complete coverage for 2/3 sets of twins and specific strategies were defined to optimize secondary grafting procedures in the remaining set.ConclusionsThis report provides a description of relevant incision design strategies for ischiopagus separation to minimize morbidity related to coverage issues, especially in the abdominal and perineal regions