Scoliosis and rare diseases: our experience with the Prader-Willi syndrome.

INTRODUCTION: Prader-Willi syndrome (PWS) represents a difficult challenge for spine surgeons, due to the association of a structural scoliosis, with a prevalence between 15 and 86%. Conservative therapy is a viable option, but surgery is increasingly becoming the treatment of choice. METHODS: The authors reviewed a series of 15 patients affected by PWS treated at their institution between 2008 and 2023. The mean age at index treatment was 9 years and 3 months (range 1-15 years) with a prevalence of female subjects. Primary scoliotic curve ranged from 14 to 102°, and mean thoracic kyphosis was 56° (range 20-75°). Eleven patients underwent conservative treatment, while four were treated surgically. RESULTS: Mean follow-up was 5 years and 3 months (range 2-12 years). Among the 11 patients treated conservatively, only two showed improvements of the coronal curve, while the remaining nine displayed a worsening of the deformity during follow-up. Complication rate after surgery was 75%. One patient developed paraplegia after pedicle screw positioning. One patient displayed rod breakage and PJK that required revision surgery proximally. Hardware deep infection was seen in one case where it was necessary to proceed with instrumentation removal after 10 years. DISCUSSION AND CONCLUSIONS: Spine surgery represents a convincing option in patients affected by PWS, but the risks of complications are high. Correct patient selection must be the main objective, and multilevel pedicle screw fixation should be the procedure of choice. Traditional growing rod should be prudently evaluated in every single case.

Diffuse bone and soft tissue angiomatosis with GNAQ mutation.

We describe a unique case of skeletal and extraskeletal angiomatosis complicated by Kasabach-Merritt syndrome. The patient was a 3-year-old boy, who presented with involvement of both femurs and left tibia, as well as with soft tissue lesions of the left thigh. At birth, multiple hemangiomas of the soft tissues of the frontal and parietal scalp had been identified, together with a space-occupying lesion of the lung. Histologically, the skeletal and soft tissue lesions consisted of a proliferation of thin-walled, dilated blood vessels, with an endothelial lining devoid of atypia and exhibiting immunoreactivity for CD31 and CD34, while podoplanin and GLUT1 were negative. Whole exome sequencing performed on samples from the lesion of the femur, the tibia and the skin of the thigh, showed a GNAQ (c.286A>T:p.T96S) variant in all specimens, that was confirmed with digital droplet PCR. This case expands the clinical and pathologic spectrum of vascular proliferations showing similar molecular biology, characterized by GNAQ, GNA11 or GNA14 mutations.

Near-miss events are really missed! Reflections on incident reporting in a department of pediatric surgery.

PURPOSE: The aim of this study was to evaluate the frequency of surgical and organizational events that occurred in the whole Department of Paediatric Surgery at Gaslini Children's Hospital through an incident-reporting system in order to identify the vulnerabilities of this system and improve it. MATERIALS AND METHODS: This is a 6-month prospective observational study (1st January-1st July 2010) of all events (including surgical and organizational events, and near misses) that occurred in our department of surgery (pediatric surgery, orthopedics and neurosurgery units). RESULTS: Over a 6-month study period, 3,635 children were admitted: 1,904 out of 3,635 (52.4%) children underwent a surgical procedure. A total number of 111 adverse events and 4 near misses were recorded in 100 patients. A total of 108 (97.3%) adverse events occurred following a surgical procedure. Of 111 adverse events, 34 (30.6%) required re-intervention. Eighteen of 100 patients (18%) required a re-admission, and 18 of 111 adverse events (16.2%) were classified as organizational. Infection represented the most common event. CONCLUSIONS: An electronic physician-reported event tracking system should be incorporated into all surgery departments to report more accurately adverse events and near misses. In this system, all definitions must be standardized and near misses should be considered as important as the other events, being a rich source of learning.

Elastic stable intramedullary nailing (ESIN) in paediatric femur and tibia shaft fractures: Comparison between titanium and stainless steel nails.

INTRODUCTION: Elastic stable intramedullary nailing (ESIN) is currently considered the gold standard in surgical treatment of femur and tibial shaft fractures in school age paediatric patients. Although elastic intramedullary nails are available in both titanium (Ti) and stainless steel (SS) alloy, titanium nails are most commonly used. Nevertheless, there is still contrasting evidence as to whether the use of Ti nails can offer better outcomes in terms of fracture healing and stability over SS nails. The aim of this study was to compare outcomes and complications of Ti and SS ESIN for femur and tibia shaft fractures in a population of school age paediatric patients. MATERIALS AND METHODS: All consecutive patients who underwent ESIN for femoral or tibial shaft fracture from June 2012 to May 2015 at our centre were retrospectively reviewed. Standard demographic data were collected. Pre-operative and post-operative X-rays were reviewed, complications were collected from patients charts. Patients were divided in two groups, titanium nails (Ti group) and stainless steel nails (SS group) and outcomes compared between the two. RESULTS: A total of 34 patients were included (17 patients Ti group, 17 patients SS group) with a total of 14 femur and 21 tibia fractures. Average age at surgery was 9.4 ± 2.5 years in Ti group and 10.4 ± 2.4 years in SS group (p = 0.21). The average time to bone healing was 3 months in Ti group, and 2.8 months in SS group (p = 0.63). At final follow-up (12 months), no patient showed a coronal plane or sagittal plane deformity >10° and >15°, respectively. Complication rate was similar between the two groups (24% Ti group, 22% SS group). CONCLUSIONS: We did not observe any significant difference in terms of bone healing, fracture mechanical stability, return to full activity, and complication rate between Ti and SS ESIN for paediatric femoral and tibial shaft fractures. While Ti nails remain a better choice for patients with metal allergy, SS nails may offer safe, effective, and cheaper alternative to Ti nails in school age femur and tibial shaft fractures.

Use of the eight-Plate for angular correction of knee deformities due to idiopathic and pathologic physis: initiating treatment according to etiology.

PURPOSE: Angular deformities of the knee resulting from idiopathic, congenital, or acquired causes are commonly encountered in pediatric orthopedics. Whereas physiological deformities should be treated expectantly, the remaining often progress enough to warrant operative treatment, despite attempted bracing. Historical methods of surgical treatment (e.g., epiphysiodesis and stapling) have yielded to the increasingly popular method of reversible guided growth using the eight-Plate. METHODS: We studied 58 patients with knee angular deformities managed with eight-Plate guided growth. All etiologies except physiological deformities and those with very slow growth rate were included. Each patient was under appropriate medical management during the entire duration of treatment and after plate removal. RESULTS: In the dysplasia/syndrome group, we noted complete correction in 22 patients (78.5%), partial correction in 5 (17.9%), and no correction in 1 patient (3.6%). All cases of idiopathic deformities resolved. Patients with osteochondral dysplasias and genetic syndromes underwent earlier intervention and slower correction than those with idiopathic genu varum or valgum. The time difference in reaching a neutral mechanical axis between the two groups (11 months in idiopathic versus 18 months in pathological physis) could be explained by a significant difference in growth speeds (P = 0.003). CONCLUSION: Results indicate that early intervention is advisable for patients with osteochondral dysplasias/syndromes as subsequent correction takes longer. If rebound growth causing recurrent deformity occurs, guided growth can be safely repeated. Additionally, complications reported with other techniques such as hardware failure, physeal violation by the implant, premature physeal closure, and overcorrection were not reported while using the eight-Plate.

Multiple forearm diaphyseal fracture: reduction and plaster cast control at the end of growth.

The authors followed up 20 patients with multiple diaphyseal fractures of the radius and ulna who were treated nonoperatively and who healed with axial deviation >5 degrees in at least one plane 20.4+/-6.7 years after radiographic evidence of fracture union. Mean age at follow-up was 28.6+/-6.4 years. Radiographs were measured soon after reduction, at 10 days from reduction, at the end of treatment, and at follow-up (17/20). Both elbow and forearm range of motion (ROM) were compared with those of the contralateral side. At follow-up, ROM was normal and radiographs showed angular deviations <5 degrees .