Search Results (64)

Background and Objectives: Surgical site infections (SSIs) significantly impact pediatric spinal deformity surgery. Considering the increased risk of Gram-negative infections in neuromuscular scoliosis (NMS), broader antibiotic coverage could be advantageous. Some studies suggest extending this approach to all scoliosis etiologies to reduce SSI rates. This study evaluates whether a dual antibiotic prophylaxis with cephalosporin and aminoglycoside reduces SSI incidence within 90 days postsurgery in adolescent idiopathic scoliosis (AIS), NMS, and syndromic scoliosis (SS) patients. Materials and Methods: This study included pediatric patients with AIS, NMS, or SS curves, treated with posterior spinal fusion between January 2019 and December 2022, with a minimum two-year follow-up. The primary outcome was early SSI incidence and its correlation with dual antibiotic prophylaxis in pediatric scoliosis surgery. Secondary outcomes included operative data, blood loss, hemoglobin levels, hospital stay, complications, pelvic fixation, and radiographic correction and how these factors could be identified as potential risk factors for SSIs. Descriptive and inferential statistics were used to analyze antibiotic regimen, SSI risk, and perioperative variables using chi-square, Mann–Whitney U, ANOVA, and Cox regression. Significance was set at p < 0.05. Results: The study included 296 patients: 222 with AIS, 46 with NMS, and 28 with SS. Ninety days postsurgery, SSI rates were 1.2% in AIS (0.8% deep, 0.4% superficial), 6.5% in NMS (all superficial), and 3.5% in SS (all superficial). Deep SSIs in AIS were associated with methicillin-resistant Staphylococcus aureus (MRSA). None of the cases required implant removal. Univariate Cox regression did not reveal any statistically significant predictors for SSIs. However, older age at surgery showed a protective trend, while higher preoperative ASA scores seemed to be a negative prognostic factor (respectively p = 0.051 and p = 0.08). Conclusions: Dual antibiotic prophylaxis with cefazolin and amikacin was associated with a lower SSI rate after posterior spinal fusion for scoliosis, with no adverse events. Further studies are needed to refine dosage, timing, and duration. Full article

Background: Patients with Ehlers–Danlos Syndrome (EDS) and craniocervical instability are treated with extensive craniocervical fixation. A new argument and treatment are proposed related to filum terminale collagen dysfunction: the Neuro-Cranio-vertebral syndrome theory (NCVS). Objectives: To analyse clinical manifestation and imaging features of NCVS patients associated with EDS compared with 373 NCVS-affected controls, to propose an aetiopathogenic mechanism for NCVS in EDS patients, and to analyse and assess postoperative changes in NCVS patients with EDS after sectioning of the filum terminale. Methods: We conducted a retrospective study and selected ten patients diagnosed with EDS and NCVS. We present the images, signs, and symptoms in these cases, compared to those of 373 patients with NCVS alone. In addition, we report postsurgical findings in four EDS–NCVS patients after sectioning of the filum terminale. Results: Patients with EDS and NCVS had more cranial and vertebral symptoms. There were also significant differences in the neurological signs present in EDS–NCVS compared to those in NCVS alone. Patients who underwent sectioning of the filum terminale showed a significant improvement in signs and symptoms. Conclusions: The concept of craniocervical instability due to EDS does not explain a large number of neurological signs and symptoms, which seem to fit better in our new NCVS theory. Surgical treatment would only involve sectioning the filum terminale, while cervical fusion would never be justified in such patients. Full article

Background/Objectives: Scoliosis is a prevalent comorbidity in Rett syndrome (RTT), often necessitating surgical intervention. This study investigated the impact of a 10-month individualized home exercise program (HEP) on scoliosis progression and gross motor function in girls aged six to 16 years with RTT. Methods: A multiple-baseline single-case design (AABA) was employed with 20 participants. A remotely supervised HEP, based on established principles focused on posture and physical activity, was implemented daily for at least one hour. The primary outcome was the rate of scoliosis progression assessed through the Cobb angle change measured via spinal radiographs at baseline, pre-intervention, and post-intervention. The secondary outcome was the gross motor function. Results: The HEP did not significantly reduce the rate of scoliosis progression. However, individual responses varied, with three participants showing scoliosis reduction. Significant improvements were observed in gross motor function, particularly in standing, walking, and stair-climbing abilities. Conclusions: The HEP did not significantly impact overall scoliosis progression, but a significant improvement was found in gross motor function. Further research into larger sample sizes is needed to confirm the effectiveness of exercise interventions in people with RTT. Full article

Background/Objectives: Crisponi/cold-induced sweating syndrome 1 (CISS1/CISS, MIM#272430) is a genetic disorder due to biallelic variants in CRFL1 (MIM*604237). The related phenotype is mainly characterized by abnormal thermoregulation and sweating, facial muscle contractions in response to tactile and crying-inducing stimuli at an early age, skeletal anomalies (camptodactyly of the hands, scoliosis), and craniofacial dysmorphisms, comprising full cheeks, micrognathia, high and narrow palate, low-set ears, and a depressed nasal bridge. The condition is associated with high lethality during the neonatal period and can benefit from timely symptomatic therapy. Methods: We collected frontal images of all patients with CISS1/CISS published to date, which were analyzed with Face2Gene (F2G), a machine-learning technology for the facial diagnosis of syndromic phenotypes. In total, 75 portraits were subdivided into three cohorts, based on age (Cohort 1 and 2) and the presence of the typical facial trismus (Cohort 3). These portraits were uploaded to F2G to test their suitability for facial analysis and to verify the capacity of the AI tool to correctly recognize the syndrome based on the facial features only. The photos which passed this phase (62 images) were fed to three different AI algorithms—DeepGestalt, Facial D-Score, and GestaltMatcher. Results: The DeepGestalt algorithm results, including the correct diagnosis using a frontal portrait, suggested a similar facial phenotype in the first two cohorts. Cohort 3 seemed to be highly differentiable. The results were expressed in terms of the area under the curve (AUC) of the receiver operating characteristic (ROC) curve and p Value. The Facial D-Score values indicated the presence of a consistent degree of dysmorphic signs in the three cohorts, which was also confirmed by the GestaltMatcher algorithm. Interestingly, the latter allowed us to identify overlapping genetic disorders. Conclusions: This is the first AI-powered image analysis in defining the craniofacial contour of CISS1/CISS and in determining the feasibility of training the tool used in its clinical recognition. The obtained results showed that the use of F2G can reveal valid support in the diagnostic process of CISS1/CISS, especially in more severe phenotypes, manifesting with facial contractions and potentially lethal consequences. Full article

Background: This is a retrospective study. The aim of this study is to report the results of bipolar minimally invasive fusionless surgery for scoliosis in Rett syndrome with a minimum follow-up of 2 years. Conservative treatment is often not effective in Rett syndrome scoliosis. Posterior spinal fusion (PSF) has a high rate of complications; early surgery using traditional growing rods (TGRs) controls the deformity while preserving spinal and thoracic growth before arthrodesis. The need for surgical rod lengthening still has a high rate of complications and costs. Methods: We recorded the clinical and radiological outcomes of 22 consecutive patients with Rett scoliosis who underwent bipolar fusionless surgery with a mean follow-up of 56 months (24–99). We performed a bilateral construct with rods (with or without a self-sliding device) anchored proximally with four hook claws distally to the pelvis by ilio-sacral (IS) screws through a minimally invasive approach. Results: The Cobb angle was reduced from 74.4° initially to 28.9° postoperatively and to 25.7° at the last follow-up, which corresponds to a 65% correction of the initial deformity. The gain was maintained at the last follow-up. None of the patients required spinal fusion at skeletal maturity (55% of our patients reached skeletal maturity). There was a gain in body weight (27.97 kg at preoperative time and 33.04 kg at postoperative time). The surgical complication rate was 32%. Conclusions: We recorded the stable correction of deformities and weight gain over time using the bipolar minimally invasive fusionless technique with a reduced rate of complication compared to arthrodesis. The arthrodesis was not necessary at skeletal maturity, thanks to the delayed natural ankylosis of a fixed spine. Full article

Thoracic insufficiency syndrome (TIS) and early-onset scoliosis (EOS) are complex pediatric conditions involving deformities of the spine and chest wall, which can significantly impact respiratory function and overall development. Managing these conditions requires a comprehensive approach that combines precise diagnosis and innovative treatment strategies. This opinion article provides a critical discussion of the diagnosis and treatment of TIS and EOS and reflects upon the advancement of methods that are crucial for assessing these conditions and guiding treatment decisions. Full article

Background: Anorectal malformations (ARMs) are a common pediatric surgical problem with an incidence of 1:1500 to 1:5000 live births. The phenotypical spectrum extends from anal stenosis to imperforate anus with or without anal fistula to persistent cloaca. They can manifest as either non-syndromic or syndromic conditions. Various environmental and genetic risk factors have been elucidated. The widespread use of genetic screening tests for the investigation of developmental disorders increased the recognition of copy number variants (CNVs) of the 1q21.1 region. Duplications have also been associated with a multitude of congenital anomalies, such as heart disease, short stature, scoliosis, urogenital, and ARMs, and they have also been found in healthy individuals. The aim of this manuscript is to contribute to the definition of the phenotype associated with 1q21.1 duplications. Case presentation: The present case describes a male, referred to us for an ARM, in whom array—comparative genomic hybridization (array-CGH) identified 1q21.1 duplication inherited from his healthy mother. No other genetic test was performed on the patient. Conclusions: We propose considering genetic evaluation and analysis in patients with only one congenital malformation in order to eventually make an early diagnosis and a better quality of treatments. Full article

Objectives: Severe early-onset scoliosis (EOS) can be addressed by different growth-friendly approaches, although the indications of each technique remain controversial. The aim of this study was to compare, in a large series of patients, the potential and limitations of the different distraction-based surgical techniques to establish the most suitable surgical approach to treat EOS. Methods: We conducted a retrospective observational cohort study evaluating 62 EOS cases treated between January 2002 and December 2021 with a traditional growing rod (TGR), a magnetically controlled growing rod (MCGR) and vertical expandable prosthesis titanium ribs (VEPTR) at IRCSS Istituto Ortopedico Rizzoli, Bologna, Italy. The patients included had a mean age of 7 years and a mean follow-up of 36 months. The COBB angle was measured on x-rays at preoperative, early postoperative, and end of follow-up, and complications were recorded. Results: in our cohort, VEPTR was mainly used in congenital scoliosis (50% vs. a mean value of 25.8%) and syndromic scoliosis (42.9% vs. a mean value of 25.8%). MCGR was mainly used in idiopathic scoliosis (73.9% vs. an average value of 41.9%). TGR was mostly used in muscular neurology EOS (16% vs. an average value of 6.5%). The collected data show a similar deformity correction rate in growing-rod implants in VEPTR, TGR, and MCGR. The mean curve reduction was 25.8 95% CI (21.8–29.8) (p < 0.0005). Compared with preoperative measurements, significant differences in curve magnitude correction between subgroups occurred at the final treatment measurements, when patients with MCGR had a significantly larger correction (53.2° ± 20.84 in %33.9 con DS ± 14.27) than VEPTR (27.12°± 19.13 in %19.7° ± 13.7). Conclusions: Different growing-rod techniques are applied based on EOS etiology. While all EOS etiologies benefited from this surgical approach, congenital EOS had poorer results. Overall, MCGR has been the preferred option for idiopathic EOS and appears to be the most effective in correcting the primary curve. Full article

The utilization of recombinant human growth hormone therapy in pediatric populations, originally approved to treat diseases of growth hormone deficiency, has expanded to encompass a broader range of indications, leading to a threefold increase in its utilization in the last two decades. However, concerns regarding its safety, particularly those that are orthopedic in nature, have grown alongside its increasing popularity. Growth hormone usage has been reported to predispose patients to a multitude of common orthopedic conditions, including carpal tunnel syndrome, Legg–Calve–Perthes disease, little league shoulder, Osgood–Schlatter disease, osteochondritis dissecans, scoliosis, Sever’s disease, and slipped femoral capital epiphysis. The pathways by which growth hormone therapy can precipitate orthopedic pathology has been shown to be multifactorial, involving mechanisms such as hormonal changes, growth plate instability, rapid growth, and increased susceptibility to overuse injury. This review examines the orthopedic consequences of growth hormone therapy in pediatric patients by discussing these potential pathophysiologic mechanisms of injury and analyzing subsequent clinical manifestations. By examining processes underlying these complications, we highlight the need for orthopedic surveillance and management in children receiving GHT, particularly those with pre-existing musculoskeletal comorbidities or high levels of physical activity. Our findings underscore the importance of a multidisciplinary approach involving co-management by pediatricians, endocrinologists, and orthopedic surgeons to optimize safety and outcomes for these patients. Directions for future research include correlating pathophysiologic mechanisms to injury patterns, investigating long-term complications in recently approved growth hormone therapy indications, and informing clinical guidelines on the management of orthopedic injuries in this patient population. Full article

Background: Costello syndrome (CS) is a rare genetic syndrome in which, due to the occurrence of a mutation in the HRAS gene on chromosome 11 that causes the manifestation, a set of features such as a characteristic appearance, many congenital defects, intellectual disability and a genetic predisposition to cancer, friendly personality, and others can be identified. CS is very rare, with an incidence of ~1/300,000, but it belongs to one of the largest groups of congenital syndromes, called RASopathies, occurring with an incidence of 1/1000 people. Scoliosis and kyphosis, as well as other spinal defects, are common, in 63% and 58% of patients, respectively, and a study conducted among adult patients showed the presence of scoliosis in 75% of patients; there may be excessive lordosis of the lumbar section and inverted curvatures of the spine (lordosis in the thoracic section and kyphosis in the lumbar section). The aim of our study is to present a case report of treatment of severe scoliosis of 130 degrees in a 14-year-old patient with Costello syndrome, with coexisting Chiari II syndrome and syrinx in the absence of skeletal maturity. This patient underwent foramen magnum decompression 3 months before planned surgical correction for severe scoliosis. The patient was qualified for surgical treatment using magnetically controlled growing rods (MCGR). After spine surgery using MCGR, we gradually performed MCGR distraction over the next 2 years; we performed the final surgery, conversion to posterior spinal fusion (PSF) with simultaneous multi-level Ponte osteotomy, which gave a very good and satisfactory surgical result. In the perioperative period, two serious complications occurred: pneumothorax caused by central catheter and gastrointestinal bleeding due to previously undiagnosed gastrointestinal varices. This case shows that the treatment of severe and neglected scoliosis is complicated and requires special preparation and a surgical plan with other cooperating specialists. The scoliosis was corrected from 130 degrees to approximately 48 degrees, sagittal balance was significantly improved, and the surgical outcome was very pleasing, significantly improving quality of life and function for the patient. Full article

Background: Neither radiological phenotypic characteristics nor reconstruction CT scan has been used to study the early anatomical disruption of the cranial bone in children with the so-called idiopathic type of West syndrome. Material and Methods: The basic diagnostic measures and the classical antiepileptic treatments were applied to these children in accordance with the conventional protocol of investigations and treatment for children with West syndrome. Boys from three unrelated families were given the diagnosis of the idiopathic type of West syndrome, aged 7, 10 and 12 years old. Parents underwent extensive clinical examinations. Three parents (age range of 28–41 year) were included in this study. All children showed a history of intellectual disabilities, cryptogenic epileptic spasms and fragmented hypsarrhythmia. These children and their parents were referred to our orthopedic departments because of variable skeletal deformities. Variable forms of skeletal deformities were the motive for the families to seek orthopedic advice. A constellation of flat foot, torticollis and early-onset osteoarthritis were observed by the family doctor. Apparently, and from the first clinical session in our practice, we felt that all these children are manifesting variable forms of abnormal craniofacial contour. Thereby, we immediately performed detailed cranial radiological phenotypic characterization of every affected child, as well as the siblings and parents, and all were enrolled in this study. All affected children underwent whole-exome sequence analysis. Results: The craniofacial phenotype of all children revealed apparent developmental anatomical disruption of the cranial bones. Palpation of the skull bones showed unusual palpable bony ridges along different sutural locations. A 7-year-old child showed abnormal bulging over the sagittal suture, associated with bilateral bony ridges over the squamosal sutures. AP skull radiograph of a 7-year-old boy with West syndrome showed facial asymmetry with early closure of the metopic suture, and other sutures seemed ill-defined. A 3D reconstruction CT scan of the skull showed early closure of the metopic suture. Another 3D reconstruction CT scan of the skull while the patient was in flexion showed early closure of the squamosal sutures, pressing the brain contents upward, causing the development of a prominent bulge at the top of the mid-sagittal suture. A reformatted 3D reconstruction CT scan confirmed the bilateral closure of the squamosal suture. Examination of the parents revealed a similar skull radiographic abnormality in his mother. A 3D reformatted frontal cranial CT of a 35-year-old mother showed early closure of the metopic and sagittal sutures, causing a mid-sagittal bony bulge. A 10-year-old boy showed an extremely narrow frontal area, facial asymmetry and a well palpable ridge over the lambdoid sutures. A 3D axial reconstruction CT scan of a 10-year-old boy with West syndrome illustrated the asymmetry of the posterior cranial bones along the lambdoid sutures. Interestingly, his 28-year-old mother has been a client at the department of spine surgery since she was 14 years old. A 3D reconstruction CT scan of the mother showed a noticeable bony ridge extending from the metopic suture upwards to involve the sagittal suture (red arrow heads). The black arrow shows a well demarcated bony ridge over the squamosal suture. A 3D reconstruction CT scan of the skull and spine showed the thick bony ridge of the metopic and the anterior sagittal as well as bilateral involvement of the squamosal, causing apparent anterior narrowing of the craniofacial contour. Note the lumbar scoliosis. A 12-year-old boy showed brachycephaly. A lateral skull radiograph of a 12-year-old boy with West syndrome showed premature sutural fusion, begetting an abnormal growth pattern, resulting in cranial deformity. The nature of the deformity depends on which sutures are involved, the time of onset and the sequence in which individual sutures fuse. In this child, brachycephalic secondary to craniosynostosis, which occurred because of bilateral early ossification of the coronal sutures, led to bi-coronal craniosynostosis. Thickened frontal bones and an ossified interclinoid ligament of the sella turcica were encountered. The lateral skull radiograph of a 38-year-old mother with a history of poor schooling achievements showed a very similar cranial contour of brachycephaly, thickening of the frontal bones and massive ossification of the clinoid ligament of the sella turcica. Maternal history revealed a history of multiple spontaneous miscarriages in the first trimester of more than five times. Investigating his parents revealed a brachycephalic mother with borderline intelligence. We affirm that the pattern of inheritance in the three boys was compatible with the X-linked recessive pattern of inheritance. Whole-exome sequencing showed non-definite phenotype/genotype correlation. Conclusions: The aim of this study was sixfold: firstly, to refute the common usage of the term idiopathic; secondly, we feel that it could be possible that West syndrome is a symptom complex rather than a separate diagnostic entity; thirdly, to further detect the genetic carrier, we explored the connection between the cranial bones in children with West syndrome with what has been clinically observed in their parents; fourthly, the early life anatomical disruptions of the cranial bones among these children seem to be heterogeneous; fifthly, it shows that the progressive deceleration in the development of this group of children is highly connected to the progressive closure of the cranial sutures; sixthly, we affirm that our findings are novel. Full article

22q11.2 deletion syndrome (22q11.2DS) shows significant clinical heterogeneity. This study aimed to explore the association between clinical heterogeneity in 22q11.2DS and the parental origin of the deletion. The parental origin of the deletion was determined for 61 individuals with 22q11.2DS by genotyping DNA microsatellite markers and single-nucleotide polymorphisms (SNPs). Among the 61 individuals, 29 (47.5%) had a maternal origin of the deletion, and 32 (52.5%) a paternal origin. Comparison of the frequency of the main clinical features between individuals with deletions of maternal or paternal origin showed no statistically significant difference. However, Truncus arteriosus, pulmonary atresia, seizures, and scoliosis were only found in patients with deletions of maternal origin. Also, a slight difference in the frequency of other clinical features between groups of maternal or paternal origin was noted, including congenital heart disease, endocrinological alterations, and genitourinary abnormalities, all of them more common in patients with deletions of maternal origin. Although parental origin of the deletion does not seem to contribute to the phenotypic variability of most clinical signs observed in 22q11.2DS, these findings suggest that patients with deletions of maternal origin could have a more severe phenotype. Further studies with larger samples focusing on these specific features could corroborate these findings. Full article

Chromosome 17q12 deletion syndrome (OMIM #614527) is a rare genetic disorder associated with a heterozygous 1.4–1.5 Mb deletion at chromosome 17q12, leading to a spectrum of clinical manifestations, including kidney abnormalities, neurodevelopmental delay, maturity-onset diabetes of the young type 5 (MODY5), and Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome. We present the case of a 14-year-old Korean female diagnosed with chromosome 17q12 deletion syndrome, confirmed by chromosomal microarray analysis. The patient exhibited MODY5 with pancreatic agenesis, MRKH syndrome, dysmorphic facial features, developmental delay, kidney rotation anomaly, portal vein thrombosis with liver hypoplasia, short stature, and scoliosis. Management involved the initiation of multiple daily insulin injections for diabetes control, gynecological evaluation for MRKH syndrome, and multidisciplinary care for associated complications. This case highlights the complexity and varied organ involvement in chromosome 17q12 deletion syndrome. A comprehensive and multidisciplinary approach is crucial for the management of affected individuals, including regular monitoring, tailored interventions across various medical specialties, and providing psychosocial support. Full article

Background: The management of spinal deformities diagnosed before the age of 10 is critical due to the child’s development, skeletal system, and growth mechanism. Magnetically controlled growing rods (MCGRs) are a surgical treatment option for the growing spine. The aim of this study was to analyze the radiological findings of patients treated with MCGRs for early-onset scoliosis (EOS) of various etiologies. We hypothesized that the MCGRs could provide acceptable long-term radiographic results, such as an increase in the T1–T12 and T1–S1 height and significant overall deformity correction. Methods: We retrospectively reviewed 161 EOS patients with a combined total of 302 MCGRs inserted at five institutions between 2016 and 2022 with a mean follow-up of at least two years. The Cobb angle of the major curve (MC), thoracic kyphosis (TK), lumbar lordosis (LL), and T1–T12 and T1–S1 height measurements were assessed before, after, and during the follow-up. Results: Among the 90 female and 71 male patients, there were 51 neurological, 42 syndromic, 58 idiopathic, and ten congenital scoliosis etiologies. Of the patients, 73 were aged under six years old. The mean follow-up time was 32.8 months. The mean age at placement of the MCGRs was 7 years and that at the last follow-up after fusion surgery was 14.5 years. The mean MC before the initial surgery was 86.2°; following rod implantation, it was 46.9°, and at the last follow-up visit, it was 45.8°. The mean correction rate among the etiology subgroups was from 43% to 50% at follow-up. The mean TK was noted as 47.2° before MCGR implantation, 47.1° after MCGR placement, and 44.5° at the last follow-up visit. The mean T1–T12 height increased by 5.95 mm per year, with a mean T1–S1 height of 10.1 mm per year. Conclusions: MCGR treatment allowed for an average correction of the curvature by 50% during the period of lengthening, while controlling any deformity and growth of the spine, with a significant increase in the T1–T12 and T1–S1 values during the observation period. MCGR treatment in EOS carries a risk of complications. While congenital and syndromic EOS often have short and less flexible curves in those groups of patients, single rods can be as effective and safe. Definitive fusion results in the mean final coronal correction between the start of MCGR treatment and after undergoing PSF of approximately 70%. The mean T1–T12 spinal height increased by 75 mm, while the T1–S1 spinal height gained a mean of 97 mm. Full article

A disease associated with malfunction of the MYH3 gene is characterised by scoliosis, contractures of the V fingers, knees and elbows, dysplasia of the calf muscles, foot deformity and limb length asymmetry. The aim of this study was to identify the cause of musculoskeletal deformities in a three-generation Polish family by exome sequencing. The segregation of the newly described c.866A>C variant of the MYH3 gene in the family indicates an autosomal dominant model of inheritance. The detected MYH3 variant segregates the disease within the family. The presented results expand the MYH3 disease spectrum and emphasize the clinical diagnostic challenge in syndromes harbouring congenital spine defects and joint contractures. Full article