Outcome of Vertical Expandable Prosthetic Titanium Rib (VEPTR) Instrumentation in Scoliosis Associated With 1p36 Deletion Syndrome: A Case Report.

Monosomy 1p36 deletion is a rare syndrome that consists of developmental delay, intellectual disability, seizures, hearing and vision defects, brain anomalies, orofacial clefting, congenital heart defects, cardiomyopathy, renal anomalies, and scoliosis. We report the case of an eight-year-old boy who presented to the orthopedic clinic with spinal deformity with a background of 1p36 deletion syndrome. The treatment modalities at this age include growing rods, vertical expandable prosthetic titanium rib (VEPTR), or posterior spinal fusion. Keeping in view the challenges in this case due to multi-organ involvement and severe intellectual disability, we decided to manage this patient with a VEPTR device to prevent the progression of scoliosis and allow spinal growth. Vertical expandable prosthetic titanium rib (VEPTR) instrumentation for progressive scoliosis in p36 deletion syndrome is an effective mode of treatment and leads to favorable outcomes.

Outcomes of Woodward's Procedure for Sprengel's Shoulder Using Neurophysiological Monitoring of the Brachial Plexus Without Clavicular Osteotomy: A Retrospective Study.

Introduction For Sprengel deformity, a variety of operations are available, with Woodward's procedure being a favorable option with good outcomes. This study aims to assess the outcomes of Woodward's procedure with brachial plexus monitoring to prevent the possible complications of nerve injury and consequent deficits. Methods In our study, we included 18 patients with Sprengel deformity treated with Woodward's procedure using intraoperative neuromonitoring for the brachial plexus from 2013 to 2019 at our institute. For each patient, we collected information about age, gender, follow-up duration, affected shoulder side, and presence of an omovertebral bar. Also, preoperative and postoperative degrees of shoulder abduction, Cavendish grade of cosmetic appearance, Rigaults grade, and difference in scapular elevation along with postoperative complications were all measured to evaluate the outcomes. Results The mean duration of follow-up was 12 months. The average preoperative Cavendish grade was 3.1, which decreased to 1.3 on the final follow-up. The average preoperative Rigault grade was 2.5, which has decreased to an average of 1.8. The average increase in the degree of shoulder abduction postoperatively was 48.3°. The average preoperative difference in scapular height (mm) was 26.9, which decreased to an average of 12.2. Furthermore, the final outcome was not impacted by the absence or the existence of the omovertebral bar. Conclusion Woodward's procedure using intraoperative neuromonitoring without clavicle osteotomy for Sprengel's deformity successfully corrects the deformity and decreases the risk of iatrogenic brachial plexus injury.

Sprengel's Deformity With Congenital Scoliosis Successfully Treated With Combined Posterior Spinal Instrumented Fusion and Modified Woodward's Procedure in a 14-Year-Old Patient With MURCS Association.

Müllerian duct aplasia-renal agenesis-cervicothoracic somite dysplasia (MURCS) association is a rare syndrome. This unique condition consists of Müllerian duct aplasia, cervicothoracic somite dysplasia, and renal aplasia, and skeletal abnormalities manifesting in childhood. We report the case of a 14-year-old girl who presented to the orthopedic clinic with spinal deformity and Sprengel's shoulder complicated by a background of MURCS association. The treatment modalities of scoliosis include posterior spinal fusion and the vertical expandable prosthetic titanium rib. On the other hand, Sprengel's deformity is surgically managed by Woodward's procedure. The management plan for our patient involved correcting scoliosis by the posterior spinal fusion procedure and performing Woodward's procedure to correct Sprengel's deformity simultaneously. Simultaneous scoliosis correction with posterior spinal instrumented fusion and Sprengel's deformity correction with modified Woodward's procedure is a promising surgical technique that can lead to favorable outcomes.

Radiological Outcomes and Complications of Vertical Expandable Titanium Rib Instrumentation in Congenital Scoliosis With or Without Rib Fusion: A Retrospective Study.

INTRODUCTION: In congenital anomalies of the thoracic spine, fusion in situ and hemi-epiphysiodesis are unsuitable surgical options, because three-dimensional thoracic deformity and insufficiency are uncorrectable. We aimed to evaluate the radiological outcome of vertical expandable titanium rib (VEPTR) application after follow-up in children with congenital scoliosis with or without rib fusion. METHODS: In our study, we included 58 patients with congenital scoliosis with or without fused ribs; all treated with VEPTR from 2005 to 2015 at our institute. There were 19 males and 39 females. For each patient, we collected information about age at the index surgery (VEPTR application) and the total number of VEPTR lengthening procedures. Also, Cobb angle, kyphotic angle, thoracic height, and spinal height were measured on preoperative radiographs, immediately post-operative, two years post-operative, and at final follow-up. RESULTS: The mean duration of follow-up was five years (range, 2-12 years). Twenty-eight patients had rib-to-pelvis type VEPTR, 20 patients had rib-to-rib type VEPTR, and 10 patients had a rib to pedicle/lamina type of VEPTR implant. Post-VEPTR, 63.8% of our patients reported one or more complications. The immediate post-VEPTR application showed that the mean Cobb angle decreased to 43.56° with a percentage change of 22.8% (p<0.001). The mean increase in thoracic height between VEPTR application surgery and final follow-up was 32 mm with a 19.3% increase (p<0.001). Similarly, the mean increase in the spinal height between the VEPTR application surgery and final follow-up was 46.6 mm, with a 23% increase (p<0.001). CONCLUSIONS: VEPTR instrumentation for congenital scoliosis, with or without rib fusion, successfully corrects the coronal Cobb angle in the majority of patients. It also allows the thoracic (T1-T12) and spinal (T1-S1) growth to approach normal for a particular age.

Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses.

BACKGROUND: Hereditary Multiple Exostoses (HME), also known as Multiple Osteochondromas (MO) is a rare genetic disorder characterized by multiple benign cartilaginous bone tumors, which are caused by mutations in the genes for exostosin glycosyltransferase 1 (EXT1) and exostosin glycosyltransferase 2 (EXT2). The genetic defects have not been studied in the Saudi patients. AIM OF STUDY: We investigated mutation spectrum of EXT1 and EXT2 in 22 patients from 17 unrelated families. METHODS: Genomic DNA was extracted from peripheral leucocytes. The coding regions and intron-exon boundaries of both EXT1 and EXT2 genes were screened for mutations by PCR-sequencing analysis. Gross deletions were analyzed by MLPA analysis. RESULTS: EXT1 mutations were detected in 6 families (35%) and 3 were novel mutations: c.739G > T (p. E247*), c.1319delG (p.R440Lfs*4), and c.1786delA (p.S596Afs*25). EXT2 mutations were detected in 7 families (41%) and 3 were novel mutations: c.541delG (p.D181Ifs*89), c.583delG (p.G195Vfs*75), and a gross deletion of approximately 10 kb including promoter and exon 1. Five patients from different families had no family history and carried de novo mutations (29%, 5/17). No EXT1 and EXT2 mutations were found in the remaining four families. In total, EXT1 and EXT2 mutations were found in 77% (13/17) of Saudi HME patients. CONCLUSION: EXT1 and EXT2 mutations contribute significantly to the pathogenesis of HME in the Saudi population. In contrast to high mutation rate in EXT 1 (65%) and low mutation rate in EXT2 (25%) in other populations, the frequency of EXT2 mutations are much higher (41%) and comparable to that of EXT1 among Saudi patients. De novo mutations are also common and the six novel EXT1/EXT2 mutations further expands the mutation spectrum of HME.

Cell salvage within adult and pediatric idiopathic scoliosis surgery: A random cross-sectional study.

INTRODUCTION: This study aimed to evaluate the use of a cell savage and its impact on the amount of allogenic blood transfused to the patients during idiopathic scoliosis surgery. METHODS: A total of 142 randomly selected patients with scoliosis had been included in this study. The adult group consisted of 78 patients, and the pediatric group, 64 patients. Both groups were divided into subgroups (pre-cell saver era and cell saver era). Data on the following parameters were collected: amount of blood transfused intraoperatively, within 24 h postoperatively, and overall. The number of patients who received transfusion was counted as the number of patients who avoided any transfusion. For statistical purposes, we performed unpaired student t-test, chi-square test, and Mann-Whitney test. RESULTS: There was no significant difference in adult groups perioperatively. In the pediatric group, there was a statistically significant difference intraoperatively. Economic analysis of blood management showed positive numbers for both groups, where more than 1 unit of blood was transfused. CONCLUSIONS: Statistical analysis showed the cost-effectiveness of the perioperative use of cell salvage during pediatric scoliosis surgery. Overall, the use of cell salvage during scoliosis surgery had a positive impact on both blood management and patient recovery.

Synovial sarcoma presenting as an intra-articular mass in a pediatric patient: a case report.

BACKGROUND: Synovial sarcoma (SS) is one of the reported sarcomas in the pediatric and adult populations. Delay in diagnosis and treatment is common in SS cases. SS may be excised before the correct diagnosis is made. CASE PRESENTATION: we present a case involving a 4-year-old boy who visited our service with complaints of left knee pain and limited knee flexion. Initially, the child was diagnosed with osteochondromatosis. Surgical excision was opted, and initial histopathological examination revealed a fibrous histiocytoma. The slide and blocks were then brought to the King Faisal Specialist Hospital Research Center (KFSH&RC) and histopathologic analysis has shown a well-circumscribed nodule in the synovium with a sub-synovial monomorphic spindle cell sarcoma, confirmed by fluorescence in situ hybridization (FISH). CONCLUSIONS: Therefore, we strongly recommend considering all differential diagnoses for soft-tissue masses when planning surgical management.

Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.

Hereditary sensory autonomic neuropathy type IV (HSAN-IV) is a rare autosomal recessive disorder that usually begins in infancy and is characterized by anhidrosis, insensitivity to noxious stimuli leading to self-mutilating behavior, and intellectual disability. HSAN-IV is caused by mutations in the neurotrophic tyrosine kinase receptor type 1 gene, NTRK1, encoding the high-affinity receptor of nerve growth factor (NGF) which maps to chromosome 1q21-q22. Patients with HSAN-IV lack all NGF-dependent neurons, the primary afferents and sympathetic postganglionic neurons leading to lack of pain sensation and the presence of anhidrosis, respectively. Herein, we report nine patients from nine unrelated families with HSAN-IV due to various mutations in NTRK1, five of which are novel. These are three missense and two nonsense mutations distributed in various domains of NTRK1 involved in binding of NGF. The affected patients had variable intellectual deficits, and some had delayed diagnosis of HSAN-IV. In addition to being the first report of HSAN-IV from the Arabian Peninsula, this report expands the mutational spectrum of patients with NTRK1 mutations and provides further insights for molecular and clinical diagnosis.

Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans.

Bruck syndrome (BS) is an autosomal recessive syndromic form of osteogenesis imperfecta (OI) that is characterized by the additional presence of pterygium formation. We have recently shown that FKBP10 previously reported as a novel autosomal recessive OI gene also defines a novel Bruck syndrome locus (BKS3). In this manuscript, we extend our analysis to describe a mutation previously described in isolated OI patients and show that it results in BS phenotype in a Saudi family. More interestingly, we describe a novel FKBP10 mutation that results in isolated OI as well as BS phenotype in the same family. These results, combined with recently published work, confirm that FKBP10 is a bonafide BS locus and lay the foundation for future research into modifiers that underlie the phenotypic heterogeneity of FKBP10 mutations.

Contoured iliac crest allograft interposition for pericapsular acetabuloplasty in developmental dislocation of the hip: technique and short-term results.

BACKGROUND: Pericapsular acetabuloplasty procedures have been widely used as an integral component of combined surgery to treat developmental hip dislocation after walking age. The stability of the acetabuloplasty and the maintenance of the acetabular correction will depend on the structural integrity of the iliac crest autograft, which, traditionally, has been inserted as the interposition material. Problems related to the use of an autograft have been encountered by various surgeons-including the authors-namely, graft displacement and resorption, which may necessitate internal fixation or result in revision surgery. To overcome autograft failure, the use of an allograft as the interposition material has been introduced by some surgeons. This study describes the radiologic results of 147 hips treated for developmental hip dislocation by means of a standard protocol of open hip reduction and pericapsular acetabuloplasty with a contoured iliac crest allograft as the interposition material. METHODS: This retrospective study reviewed the radiographs of 147 hips presenting with late developmental dislocation which were treated by open reduction and a concomitant pericapsular acetabuloplasty using a contoured iliac crest allograft as the interposition material. The minimum follow up period was 2 years. Measurement of the acetabular index (AI) was the main variable. The efficacy of the interposed iliac crest allograft as the main stabiliser of the acetabuloplasty was reflected by the maintenance of the corrected AI during the follow up period. Loss of acetabular correction, graft extrusion or resorption, the need for osteotomy internal fixation, delayed or non union, infection, hip redislocation and avascular necrosis (AVN) as possible complications were documented. RESULTS: The treatment protocol of a combined open reduction of the hip and pericapsular acetabuloplasty, inserting a contoured iliac crest allograft as the interposition material, resulted in concentrically reduced and stable hips in 96.6% of our cases. The redislocation rate was 3.4%. All of the allografts were completely incorporated at 6 months post-surgery with no graft-related infections. In only two hips was the acetabular correction not maintained. None of the osteotomies required internal fixation for stability, even in older children. CONCLUSION: We believe that a contoured iliac crest allograft as the pericapsular acetabuloplasty interposition material renders excellent osteotomy stability that eliminates the need for internal fixation and-in the short-term-maintains the correction of the acetabulum achieved intra-operatively.

The effect of a vertical expandable prosthetic titanium rib on shoulder balance in patients with congenital scoliosis.

PURPOSE: To evaluate the effect of a vertical expandable prosthetic titanium rib (VEPTR) on shoulder balance in patients with congenital scoliosis. METHODS: Fifteen patients had a thoracic congenital scoliosis. The Cobb angles of the thoracic primary curves were measured. Preoperative measurements of the coracoid height difference (CHD; expressed in millimeters) and the clavicular tilt angle difference (CTAD; expressed in degrees) were performed for all patients. All of the patients were treated with VEPTR open wedge thoracostomy. RESULT: There was a statistically significant improvement in thoracic Cobb angle. At the end of follow-up there was a significant improvement in CHD; all but three of the patients had CHD < 9 mm. Preoperatively, CTAD was 8.9°. It improved to 4.4° postoperatively and significantly decreased to 3.9° by the end of follow-up. Complications included device migration (one patient), infection (one patient), and pedicle screw loosening or displacement (two patients). CONCLUSION: VEPTR is able to produce a modest intraoperative correction of shoulder imbalance.

Five new consanguineous families with horizontal gaze palsy and progressive scoliosis and novel ROBO3 mutations.

Horizontal gaze palsy and progressive scoliosis (HGPPS) is an autosomal recessive neurologic disorder caused by homozygous or compound heterozygous mutations in the ROBO3 gene on chromosome 11. We clinically evaluated seven individuals with HGPPS from five previously unreported consanguineous families. We sequenced ROBO3 in all affected individuals, additional unaffected members of each family, and ethnic controls. All affected individuals had severe horizontal gaze restriction, progressive scoliosis, and lower brainstem hypoplasia on neuroimaging, the hallmarks of this syndrome. One individual experienced head trauma with a right subdural hematoma associated with a right hemiparesis, observations that confirm clinically for the first time that corticospinal tracts in HGPPS are uncrossed. We found five novel homozygous ROBO3 mutations (four missense mutations and one base deletion) distributed throughout the extracellular domain of the gene. The ROBO3 gene does not appear to have an obvious hot spot area for mutations; therefore, we recommend sequencing all exons and exon-intron boundaries in patients with clinical and/or radiologic features of HGPPS.

Four-limb muscle motor evoked potential and optimized somatosensory evoked potential monitoring with decussation assessment: results in 206 thoracolumbar spine surgeries.

The objective of this study was to improve upon leg somatosensory-evoked potential (SEP) monitoring that halves paraplegia risk but can be slow, miss or falsely imply motor injury and omits arm and decussation assessment. We applied four-limb transcranial muscle motor-evoked potential (MEP) and optimized peripheral/cortical SEP monitoring with decussation assessment in 206 thoracolumbar spine surgeries under propofol/opioid anesthesia. SEPs were optimized to minimal averaging time that determined feedback intervals between MEP/SEP sets. Generalized changes defined systemic alterations. Focal decrements (MEP disappearance and/or clear SEP reduction) defined neural compromise and prompted intervention. They were transient (quickly resolved) or protracted (>40 min). Arm and leg MEP/SEP monitorability was 100% and 98/97% (due to neurological pathology). Decussation assessment disclosed sensorimotor non-decussation requiring ipsilateral monitoring in six scoliosis surgeries (2.9%). Feedback intervals were 1-3 min. Systemic changes never produced injury regardless of degree. They were gradual, commonly included MEP/SEP fade and sometimes required large stimulus increments to maintain MEPs or produced >50% SEP reductions. Focal decrements were abrupt; their positive predictive value for injury was 100% when protracted and 13% when transient. Six transient arm decrements predicted one temporary radial nerve injury; five suggested arm neural injury prevention (2.4%). There were 15 leg decrements: six MEP-only, four MEP before SEP, three simultaneous and two SEP-only. Five were protracted, predicting four temporary cord injuries (three motor, one Brown-Sequard) and one temporary radiculopathy. Ten were transient, predicting one temporary sensory cord injury; nine suggested cord injury prevention (4.4%). Two radiculopathies and one temporary delayed paraparesis were unpredicted. The methods are reliable, provide technical/systemic control, adapt to non-decussation and improve spinal cord and arm neural protection. SEP optimization speeds feedback and MEPs should further reduce paraplegia risk. Radiculopathy and delayed paraparesis can evade prediction.

Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis.

The mechanisms controlling axon guidance are of fundamental importance in understanding brain development. Growing corticospinal and somatosensory axons cross the midline in the medulla to reach their targets and thus form the basis of contralateral motor control and sensory input. The motor and sensory projections appeared uncrossed in patients with horizontal gaze palsy with progressive scoliosis (HGPPS). In patients affected with HGPPS, we identified mutations in the ROBO3 gene, which shares homology with roundabout genes important in axon guidance in developing Drosophila, zebrafish, and mouse. Like its murine homolog Rig1/Robo3, but unlike other Robo proteins, ROBO3 is required for hindbrain axon midline crossing.

Monitoring scoliosis surgery with combined multiple pulse transcranial electric motor and cortical somatosensory-evoked potentials from the lower and upper extremities.

STUDY DESIGN: A retrospective case review was performed. OBJECTIVE: To assess the value, rapidity, and safety of combined multiple-pulse transcranial electric stimulation motor-evoked potential and somatosensory-evoked potential monitoring during scoliosis surgery. SUMMARY OF BACKGROUND DATA: Leg somatosensory-evoked potentials can miss motor deficits, and a 50% amplitude warning criterion can produce false alarms. METHODS: For this study, 33 scoliosis surgeries in neurologically normal patients under propofol/fentanyl anesthesia omitting neuromuscular blockade were monitored with four-extremity multiple-pulse transcranial electric stimulation muscle motor-evoked potentials and cortical somatosensory-evoked potentials. Instead of amplitude criteria, parallel (same-direction) change was used to identify systemic alteration and nonparallel (one- or two-limb) deterioration to identify focal neurologic compromise. Clinical observation and intraoperative electroencephalography were used to assess adverse effects. RESULTS: Instantaneous motor-evoked potentials and rapidly reproducible cortical somatosensory-evoked potentials provided comprehensive feedback every 0.8 to 6.7 minutes (median, 2.4 minutes) without adverse effects. Parallel (systemic) changes without alarm or deficit included motor-evoked potential fading or temporary loss and leg somatosensory-evoked potential amplitudes below 50% of initial, maximum, or median intraoperative values in 10% to 37% of the cases. Three nonparallel changes occurred: 1) abrupt bilateral leg somatosensory-evoked potential 20% to 30% reduction without motor-evoked potential change during instrumentation resolving spontaneously over 30 minutes, with transient postoperative sensory symptoms; 2) right-arm somatosensory-evoked potential and motor-evoked potential reduction during hyperabduction restored after repositioning, without deficit; 3) abrupt bilateral leg motor-evoked potential loss preceding 30% to 60% somatosensory-evoked potential reduction during derotation rapidly restored after instrumentation release, without deficit. CONCLUSIONS: In neurologically normal patients, the combined methods are safe and rapid, and could improve the sensitivity and specificity of scoliosis monitoring. Arm controls facilitate differentiation between systemic alterations and focal neurologic compromise.