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BACKGROUND AND OBJECTIVE: Foramen magnum stenosis (FMS) is a common, serious complication of achondroplasia in infancy and associated with sudden infant death. The Achondroplasia Foramen Magnum Score (AFMS; 0-4) is used to classify the severity of stenosis to inform appropriate neurosurgical management. Infants with AFMS4 are referred for neurosurgery, while well children with AFMS3 undergo repeat MRI routinely after 12 months.As the natural history of children with AFMS3 is currently unclear, the objective was to review follow-up MRI scans of infants initially classified as AFMS3 to define more clearly the evolution of this degree of stenosis. DESIGN: This retrospective cohort study, from two tertiary centres, included infants with a confirmed diagnosis of achondroplasia and AFMS3 on initial MRI who subsequently underwent repeat MRI or proceeded straight to neurosurgery. RESULTS: Twenty-two cases satisfied the inclusion criteria. Mean age in months was 6.23 (SD±3.82) and 17.95 (SD±7.68) at baseline and follow-up scans, respectively. Follow-up MRI showed no change in 23% (N=5), improvement in 36% (N=8) to either AFMS1 (N=5) or AFMS2 (N=3). There was progression in 41% to AFMS4 (N=8). One case had neurosurgey without follow-up MRI (N=1). CONCLUSIONS: These results support MRI screening for FMS in infants with achondroplasia. Furthermore, infants with AFMS3 should undergo follow-up MRI as over 40% progress prompting neurosurgical intervention. There is currently no consensus on frequency or timing of screening for AFMS3 in achondroplasia; however, we suggest that guidance for follow-up imaging is modified to 6 months to detect progression earlier in this at-risk cohort.
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PURPOSE: To evaluate the efficacy of calvarial graft (CG) in craniovertebral fusion procedures in children at a single single center. METHODS: Paediatric patients in whom CG had been used as the sole construct, or to augment a semi-rigid construct were identified from a prospective operative database. Age, underlying diagnosis and clinical presentation were obtained from review of the electronic patient record. The primary outcome was bony fusion confirmed on CT. Additional outcome measures were donor site morbidity and need for further surgery. RESULTS: From 82 paediatric CVJ procedures, CG was used in 15 patients with a mean age of 4.1 (± 3.52) years. Aetiology comprised skeletal dysplasia (n = 12), congenital anomaly of segmentation (n = 1) and cervical trauma (n = 2). Myelopathy was the most common clinical finding (9/15), followed by cervical pain (3/15). The indications for surgery comprised atlanto-axial subluxation (8/15), basilar invagination with compression (2/15), and cervicomedullary compression without instability but deemed at risk of instability following decompression (4/15). CG was used in three scenarios: (i) CG + wire only (n = 10); (ii) CG + semirigid instrumentation (n = 3); (iii) CG to augment rigid instrumented fixation (n = 2). In 13 patients a Halo-body Jacket was used peri-operatively. At a mean time of 4.4 months following surgery, 80% of cases had radiological evidence of fusion. CONCLUSION: Full thickness calvarial bone graft is readily available, has good structural integrity and is associated with minimal donor site morbidity. CG should be considered for use as a sole construct, or to augment semi-rigid constructs when instrumented fixation is precluded.
Subject(s)
Bone Transplantation , Spinal Fusion , Humans , Spinal Fusion/methods , Child, Preschool , Male , Female , Bone Transplantation/methods , Child , Atlanto-Axial Joint/surgery , Atlanto-Axial Joint/diagnostic imaging , Treatment Outcome , Skull/surgery , Infant , Cervical Vertebrae/surgery , Cervical Vertebrae/diagnostic imaging , AdolescentABSTRACT
The pediatric cervical spine is structurally and biomechanically unique in comparison to adults. Guidelines to assess for cervical spine instability and standard of care treatments in the pediatric population have yet to be delineated. This is due to the rarity of the condition and the lack of multicenter data published on the topic. Our review explores the biomechanics of the pediatric cervical spine and highlights evolving concepts/research over the last several decades, with special attention to the Down syndrome and complex Chiari malformation cohorts.
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Cervical Vertebrae , Joint Instability , Humans , Cervical Vertebrae/diagnostic imaging , Joint Instability/physiopathology , Joint Instability/diagnosis , Child , Biomechanical Phenomena/physiology , Arnold-Chiari Malformation/diagnostic imaging , Down Syndrome/physiopathologyABSTRACT
Aim: Blood-based biomarkers have shown promise for diagnosing colorectal cancer (CRC) and adenomas (CRA). This review summarizes recent studies in this area. Methods: A literature search was undertaken for 01/01/2017-01/03/2023. Criteria included CRC, CRA, liquid-biopsy, blood-based tests and diagnosis. Results: 12,378 studies were reduced to 178 for data extraction. Sixty focused on proteomics, 53 on RNA species, 30 on cfDNA methylation, seven on antigens and autoantibodies and 28 on novel techniques. 169 case control and nine cohort studies. Number of participants ranged 100-54,297, mean age 58.26. CRC sensitivity and specificity ranged 9.10-100% and 20.40-100%, respectively. CRA sensitivity and specificity ranged 8.00-95.70% and 4.00-97.00%, respectively. Conclusion: Sensitive and specific blood-based tests exist for CRC and CRA. However, studies demonstrate heterogenous techniques and reporting quality. Further work should concentrate on validation and meta-analyzes.
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Adenoma , Biomarkers, Tumor , Colorectal Neoplasms , Humans , Colorectal Neoplasms/diagnosis , Colorectal Neoplasms/blood , Biomarkers, Tumor/blood , Adenoma/diagnosis , Adenoma/blood , Proteomics/methodsABSTRACT
OBJECTIVE: Cerebellar pilocytic astrocytomas (cPAs) in childhood have long been recognized to have a good prognosis after total resection, but the outcome after incomplete resective surgery remains largely unpredictable, with the incidence of radiological progressive disease ranging from 18% to 100%. It has been traditionally thought that gross-total resection was required for long-term survival, and small residuals were classically resected in a subsequent operation. METHODS: The authors analyzed their pediatric low-grade glioma (PLGG) database for cases treated between 1985 and 2020 and filtered for intracranial PAs, to determine what clinical or radiological factors precipitated revisional resective surgery in their single quaternary care center cohort. RESULTS: Using the pediatric low-grade glioma database, 283 patients were identified to have a histopathological diagnosis of intracranial PA between 1985 and 2020, of which 200 lesions were within the cerebellum (70.7%). The majority of patients with cPA were between 1 and 10 years of age (n = 145, 72.5%) without gender predominance (M/F = 99:101), usually presenting with 1 lesion (n = 197, 98.5%). Gross-total resection was achieved in 74.5% (n = 149) of initial surgeries for cPA. In patients with subtotal resection, the mean largest diameter of the postoperative residual tumor was 1.06 cm (range 0-2.95 cm). Seven patients with subtotal resection did not require a second resective intervention. In 31 patients the neuro-oncology multidisciplinary team recommended a second resection at a mean time interval of 22.9 months (range 0.13-81.6 months) from the initial surgery. Proportionally, the children who underwent multiple resections were also more likely to receive adjuvant chemo/radiotherapy. Functionally, the children in the multiple operation cohort experienced more complications of therapy including ongoing endocrinopathy, treatment-associated hearing deficit, and neurocognitive deficits. CONCLUSIONS: Residual disease in cPA should be maintained under clinicocoradiological surveillance postoperatively with adoption of a more conservative approach when residual disease is not significantly changing over time.
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Astrocytoma , Cerebellar Neoplasms , Reoperation , Humans , Astrocytoma/surgery , Astrocytoma/diagnostic imaging , Child , Female , Male , Child, Preschool , Cerebellar Neoplasms/surgery , Cerebellar Neoplasms/diagnostic imaging , Cerebellar Neoplasms/pathology , Infant , Adolescent , Neurosurgical Procedures/methods , Treatment Outcome , Retrospective Studies , Neoplasm, Residual/surgery , Databases, FactualABSTRACT
INTRODUCTION: Foramen magnum stenosis in achondroplasia carries a risk of sudden death. A proportion of these patients benefit from foramen magnum decompression (FMD). The Achondroplasia Foramen Magnum Score (AFMS) was developed to stratify those most at risk. We hypothesise that this score may be reflected in neurophysiological findings. METHODS: Patients with achondroplasia who had undergone FMD (n=20) were retrospectively grouped into AFMS 2, 3 and 4. Amplitude from tibialis anterior (TA) and the percentage change in somatosensory evoked potential (SSEP) latency after FMD were reported. RESULTS: Baseline motor evoked potential amplitudes for patients with AFMS=4 were significantly lower left (p=0.0017 and p=0.02 for right and left TA, respectively) compared with AFMS grades 2 and 3. Median reduction (% change) in SSEP latency (ms) after surgery was not significantly different in any of the patients. CONCLUSIONS: This short report cross-references AFMS to intraoperative neuromonitoring. Baseline amplitudes were noticeably lower in the most severe AFMS group. This observation supports the notion that AFMS can help risk stratify patients and aid in surgical selection.
Subject(s)
Achondroplasia , Evoked Potentials, Somatosensory , Foramen Magnum , Humans , Foramen Magnum/surgery , Achondroplasia/physiopathology , Achondroplasia/surgery , Achondroplasia/complications , Male , Female , Evoked Potentials, Somatosensory/physiology , Retrospective Studies , Child , Evoked Potentials, Motor/physiology , Child, Preschool , Decompression, Surgical/methods , Intraoperative Neurophysiological Monitoring/methods , AdolescentABSTRACT
BACKGROUND AND OBJECTIVES: Growing skull fracture (GSF) is a rare complication of pediatric head trauma. Definitive treatment is surgical repair. We have attempted to assess whether use of autologous grafts for duraplasty and cranioplasty leads to better outcomes. We have also attempted to understand how timing of surgery might affect the degree of underlying damage to cortical tissue. METHODS: This is a single-center retrospective observational study based on review from the Great Ormond Street Hospital Neurosurgery prospective surgical database. All patients undergoing surgery for GSF repair between 1991 and 2015 were included. Surgical techniques included split calvarial grafts in 4 patients, whereas rest had full-thickness bone grafting. In all cases with full-thickness graft, the donor site was covered with morselized bone chips mixed with fibrin glue (Salami technique). RESULTS: Twenty-eight patients were identified (16 males, 12 females). The average age at the time of injury was 13 months. The mean duration of onset of symptoms from the time of injury was 4.4 months. The time interval from symptom onset to surgical repair was 5.92 months. Seven patients had Type I GSF (leptomeningeal cyst with minimal brain parenchyma), 13 had type II (hernia containing gliotic brain), and 8 had type III (porencephalic cyst extending through the skull defect into subgaleal space). Patients with delayed presentation had severe brain injury (Type III) and had more long-term complications (refractory epilepsy requiring temporo-occipito-parietal disconnection and development of hydrocephalus requiring ventriculoperitoneal shunt insertion). CONCLUSION: Autologous pericranium for duraplasty and split-thickness bone graft or the Salami technique are recommended for cranioplasty. Synthetic materials should be used if the index operation fails or there are complications. Patients with high-risk findings should be identified at the time of initial presentation and followed up in clinic early to prevent onset of neurological deficit. Early repair is associated with better neurological outcomes.
Subject(s)
Skull Fractures , Humans , Female , Male , Retrospective Studies , Infant , Treatment Outcome , Skull Fractures/surgery , Bone Transplantation/methods , Child, Preschool , Transplantation, Autologous/methods , Neurosurgical Procedures/methods , Tertiary Care Centers , Child , Plastic Surgery Procedures/methodsABSTRACT
Dysraphic malformations of the spine and spinal cord (DMSSC) represent a spectrum of common congenital anomalies typically (though not exclusively) affecting the lower spinal segments. These may be responsible for varying degrees of neurologic, orthopedic, and urologic morbidity. With advances in neuroimaging, it is now possible to better diagnose and evaluate these disorders both prenatally and postnatally. Neuroimaging, performed at the right time and with technique optimization, is integral in guiding clinical management. However, the terminology used to describe these lesions has become increasingly confusing, and there is a lack of consensus regarding the essential radiologic features and their clinical weighting. This variability in radiologic practice risks unstructured decision making and increases the likelihood of suboptimal, less informed clinical management. In this manuscript, the first of a series of consensus statements, we outline a standardized international consensus statement for the radiologic evaluation of children with suspected DMSSC derived from a critical review of the literature, and the collective clinical experience of a multinational group of experts. We provide recommendations for plain radiography, sonography, CT, and MR imaging in the evaluation of DMSSC with an emphasis on technique of imaging and imaging protocols.
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Dermal sinus tracts (DSTs) are congenital lesions that connect the cutaneous ectoderm with the underlying neuroectodermal tissues. They are typically midline, solitary lesions. Multiple, and atypically located DSTs have been only rarely described. We present two cases of multiple and laterally located DSTs. The first presented with bacterial meningitis and two tracts in the right buttock, one of which entered the spinal canal through the S3 neural foramen. The second child had three midline lumbar DSTs, one subcutaneous dermoid cyst and one intradural epidermoid cyst. Complete surgical excision was achieved in both cases with good late follow up. Multiple or atypically located DSTs appear to carry the same risks of infection as the more common, midline, single tracts. Complete surgical excision is recommended to avoid the risks of neurological deterioration, in particular due to infection. Incomplete disjunction is the proposed developmental anomaly for DSTs, however the location of the cases presented here requires an alternative explanation.
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Mass Screening , Occult Blood , Humans , Retrospective Studies , Sensitivity and Specificity , Primary Health CareABSTRACT
Intracardiac migration is a rare complication of ventriculoperitoneal shunt insertion. Only 15 cases have been reported, 7 of which were paediatric cases, treated with techniques including interventional radiography, open thoracotomies and direct extraction through the initial shunt incision. The authors report the youngest case of intracardiac shunt migration complicated by significant coiling and knotting within the cardiac chambers and pulmonary vasculature. Migration likely began when the SVC was pierced during initial shunt placement and progressed due to negative intrathoracic pressure. Extrusion was achieved combining thoracoscopic endoscopy, interventional fluoroscopy screening and a posterolateral neck incision with uncoiling of the shunt via a Seldinger guide wire. This offered a minimally invasive solution with rapid post-operative recovery.
Subject(s)
Foreign-Body Migration , Ventriculoperitoneal Shunt , Humans , Child , Ventriculoperitoneal Shunt/adverse effects , Ventriculoperitoneal Shunt/methods , Catheters/adverse effects , Catheterization , Foreign-Body Migration/diagnostic imaging , Foreign-Body Migration/etiology , Foreign-Body Migration/surgeryABSTRACT
INTRODUCTION: Following transcallosal surgery for tumour resection, the formation of convexity or interhemispheric subdural cerebrospinal fluid collections may lead to clinical deterioration and may influence decision-making with regards to additional interventions. The aim of this study was to determine the incidence, risk factors, and management of subdural collections following the transcallosal approach in a paediatric cohort. METHODS: A retrospective case note and radiological review of all children who underwent transcallosal surgery for intraventricular and thalamic tumours was carried out covering a 12-year period (2012-2023) in a single-centre tertiary paediatric neurosurgery unit. Parameters including demographics and clinical information including lesion location, pathology, extent of resection, need for and type of shunt required, as well as depth, laterality, and location of the collection were analysed prior to shunting, and at approximately 3 weeks, 3 months, and latest follow-up available post-operatively in order to further elucidate the natural history of these subdural collections and their clinical significance. RESULTS: Sixty-four cases satisfied the inclusion criteria of transcallosal surgery for tumour resection; 13 did not have adequate post-operative imaging and were excluded. Of the remaining 51 cases, there were 32 children (63%) with post-operative CSF subdural collections, of which 59% were ipsilateral, with the remainder showing bilateral distribution. The overall shunt insertion rate was 25.5% (12 ventriculoperitoneal and 1 subdural-peritoneal shunt) at 3 months, with a mean time to shunting of 19 days post-operatively. Children who developed post-operative subdural collections had a higher rate of shunting, at 37.5%, compared to 5.2% in those who did not. Pre- and post-operative hydrocephalus and subtotal resection were identified as risk factors for development of subdural collections post-operatively. Subdural collections showed a natural course of reduction and regression over follow-up, with the exception of 3 children where they persisted or increased over time; although none of these required shunting. Those children who underwent shunt insertion showed greater regression in the size of the subdural collection over time compared to the non-shunted group. CONCLUSION: In this paediatric cohort, 25.5 % of children required insertion of a shunt by 3 months following transcallosal surgery. Pre- and post-operative hydrocephalus and subtotal tumour resection were risk factors for development of subdural collections post-operatively.
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Hydrocephalus , Neoplasms , Neurosurgery , Child , Humans , Infant , Retrospective Studies , Hydrocephalus/diagnostic imaging , Hydrocephalus/etiology , Hydrocephalus/surgery , Neurosurgical Procedures/adverse effects , Neoplasms/complications , Neoplasms/surgery , Ventriculoperitoneal Shunt/adverse effects , Ventriculoperitoneal Shunt/methodsABSTRACT
OBJECTIVE: Conus region lumbosacral lipomas (LSLs) are highly heterogeneous in their morphology, clinical presentation, and outcome, with an incompletely understood natural history and often treacherous surgical anatomy. This systematic review aims to critically evaluate and assess the strength of the current LSL evidence base to guide management strategies. METHODS: According to a systematic review following PRISMA guidelines, a search was conducted using the key term "lumbosacral lipoma" across MEDLINE (OVID), Embase, Cochrane Library, and PubMed databases from January 1951 to April 2021. All studies containing ten or more paediatric conus lipomas were included. Data heterogeneity and bias were assessed. RESULTS: A total of 13 studies were included, containing 913 LSLs (predominantly transitional type-58.5%). Two-thirds (67.5%) of all patients (treated and non-treated) remained clinically stable and 17.6% deteriorated. Neuropathic bladder was present in 8.6% at final follow-up. Of patients managed surgically, near-total resection vs. subtotal resection deterioration-free survival rates were 77.2-98.4% and 10-67% respectively. 4.5% (0.0-27.3%) required re-do untethering surgery. Outcomes varied according to lipoma type. Most publications contained heterogeneous populations and used variable terminology. There was a lack of consistency in reported outcomes. CONCLUSION: Amongst published series, there is wide variability in patient factors such as lipoma type, patient age, and methods of (particularly urological) assessment. Currently, there is insufficient evidence base upon which to make clear recommendations for the management of children with LSL. There is an imperative for neurosurgeons, neuroradiologists, and urologists to collaborate to better standardise the terminology, assessment tools, and surgical interventions for this challenging group of conditions.
Subject(s)
Lipoma , Spinal Cord Neoplasms , Spinal Neoplasms , Child , Humans , Infant , Spinal Cord Neoplasms/surgery , Lumbosacral Region/surgery , Magnetic Resonance Imaging/methods , Spinal Neoplasms/surgery , Lipoma/surgery , Treatment OutcomeABSTRACT
OBJECTIVE: The fibroneural stalk of an LDM has variable thickness, complexity, and length, which can span 5 to 6 vertebral segments from its skin attachment to its "merge point" with the dorsal spinal cord. Therefore, complete resection may require extensive multi-level laminotomies. In this technical note, a modification of the procedure is presented that avoids long segment laminectomies while ensuring complete excision of long LDM stalks. RESULTS: An illustrative case of resection of LDM is presented using skip laminectomies. The technique ensures complete removal of the stalk, thus reducing the risk of future intradural dermoid development, while at the same time minimizes the risk for delayed kyphotic deformity. CONCLUSIONS: A technique of "skip-hop" proximal and distal short segment laminectomies in cases of LDM optimizes the objectives of complete stalk resection with preservation of spinal integrity.
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Laminectomy , Spinal Cord , Humans , Spinal Cord/surgery , Skin , Spine/surgeryABSTRACT
INTRODUCTION: Os odontoideum refers to a rounded ossicle detached from a hypoplastic odontoid process at the body of the axis. The aetiology has been debated and believed to be either congenital or acquired (resulting from trauma). Os odontoideum results in incompetence of the transverse ligament and thus predisposes to atlantoaxial instability and spinal cord injury. METHODS/RESULTS: Three cases of children with severe dystonic cerebral palsy presenting with myelopathic deterioration secondary to atlantoaxial instability due to os odontoideum are presented. This observation supports the hypothesis of os odontoideum being an acquired phenomenon, secondary to chronic excessive movement with damage to the developing odontoid process. CONCLUSION: In children with cerebral palsy and dystonia, pre-existing motor deficits may conceal an evolving myelopathy and result in delayed diagnosis of clinically significant atlantoaxial subluxation.
Subject(s)
Atlanto-Axial Joint , Axis, Cervical Vertebra , Cerebral Palsy , Dystonia , Joint Instability , Odontoid Process , Spinal Cord Diseases , Child , Humans , Dystonia/complications , Cerebral Palsy/complications , Magnetic Resonance Imaging/adverse effects , Atlanto-Axial Joint/diagnostic imaging , Spinal Cord Diseases/complications , Odontoid Process/diagnostic imaging , Odontoid Process/abnormalities , Joint Instability/etiology , Joint Instability/complicationsABSTRACT
BACKGROUND: Distal muscle stabilization, such as myodesis (suturing muscles to bone) or myoplasty (suturing agonistic-antagonistic muscles together), can aid residual limb stabilization, provide a good soft-tissue covering, and increase rehabilitation potential. However, surgical practice varies due to scant clinical data. The aim of this review is to summarize and evaluate the literature regarding techniques and associated outcomes of distal muscle stabilization in transfemoral amputation (TFA). METHODS: A systematic review and narrative synthesis was performed following Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Resources, including observational studies, nonobservational scientific papers, conference proceedings, and textbooks, detailing techniques of TFA distal muscle stabilization were identified from standard medical repositories and library search. A supplementary search of YouTube and Google was undertaken to identify additional resources. Quality assessment was undertaken using Risk Of Bias In Nonrandomized Studies-of Interventions; Authority, Accuracy, Coverage, Objectivity, Date, Significance; and modified-Discern tools. RESULTS: Forty seven resources were identified, including 17 journal articles, 17 textbooks, 5 educational websites/eBooks, 5 videos, 2 online presentations, and 1 webpage. Thirty seven described myodesis, 11 described myoplasty, and 6 described closure without distal muscle stabilization. Eight observational studies presented outcome data for 302 TFAs. No studies comparing closure with or without distal muscle stabilization were identified. All papers describing myodesis secured the adductors to the femur, and most also secured the quadriceps and/or hamstrings to this complex. Number of femoral drill holes varied from 1 to 6. Early wound complications occurred in 17% of amputations, whereas myodesis failure occurred in 9.5%. Prosthetic fitting rates were 73% and, where reported, 100% of patients maintained neutral femoral alignment. CONCLUSIONS: Distal muscle stabilization, particularly myodesis, is a commonly described technique for TFA, although operative techniques are heterogenous. There is a paucity of outcome data, and no studies comparing it to closures without distal muscle stabilization. However, these low-quality data suggest wound healing rates are equivalent to TFA without distal muscle stabilization while demonstrating improvement to patients' rehabilitation potential.
Subject(s)
Amputation, Surgical , Femur , Humans , Treatment Outcome , Extremities , MusclesABSTRACT
Biallelic pathogenic variants of the RIPPLY2 gene have been recognized to cause a subtype of autosomal recessive spondylocostal dysostosis (SCDO6), characterized by predominant cervical spine malformation with minor or absent involvement of the ribs. To date, RIPPLY2 associated SCDO6 has been described in ten patients in five studies with accompanying clinical symptoms varying from transient and recurrent torticollis to flaccid quadriplegia. Here, we describe two additional patients in one family in which the c.A238T:p.Arg80* RIPPLY2 mutation in the homozygous state, was associated with severe malformation of the posterior elements of the cervical vertebral column. In both cases neurological symptoms occurred early in life due to spinal cord compromise. These two cases, in keeping with previous reports, highlight the early and progressive natural history of cervical deformity in this rare skeletal dysplasia and the need for close neurological and radiological surveillance. Surgical decision-making needs to carefully balance the need for early intervention to protect spinal cord function on one hand, with the problem of bone malformation and skeletal immaturity on the other.
Subject(s)
Abnormalities, Multiple , Spinal Cord Injuries , Humans , Siblings , Abnormalities, Multiple/surgery , Cervical Vertebrae/diagnostic imaging , Cervical Vertebrae/surgery , Cervical Vertebrae/abnormalities , Spinal Cord Injuries/complicationsABSTRACT
Children living with achondroplasia are at an increased risk of developing neurological complications, which may be associated with acute and life-altering events. To remediate this risk, the timely acquisition of effective neuroimaging that can help to guide clinical management is essential. We propose imaging protocols and follow-up strategies for evaluating the neuroanatomy of these children and to effectively identify potential neurological complications, including compression at the cervicomedullary junction secondary to foramen magnum stenosis, spinal deformity and spinal canal stenosis. When compiling these recommendations, emphasis has been placed on reducing scan times and avoiding unnecessary radiation exposure. Standardized imaging protocols are important to ensure that clinically useful neuroimaging is performed in children living with achondroplasia and to ensure reproducibility in future clinical trials. The members of the European Society of Pediatric Radiology (ESPR) Neuroradiology Taskforce and European Society of Neuroradiology pediatric subcommittee, together with clinicians and surgeons with specific expertise in achondroplasia, wrote this opinion paper. The research committee of the ESPR also endorsed the final draft. The rationale for these recommendations is based on currently available literature, supplemented by best practice opinion from radiologists and clinicians with subject-specific expertise.
Subject(s)
Achondroplasia , Radiology , Child , Humans , Infant , Foramen Magnum/surgery , Reproducibility of Results , Constriction, Pathologic , Achondroplasia/diagnostic imagingABSTRACT
More than 30 years have elapsed since it was recognised that folic acid supplementation could substantially reduce the risk of open neural tube defects (ONTDs). During that time, many countries have adopted policies of food fortification with demonstrable reduction in the incidence of both cranial and spinal ONTDs. Improved prenatal detection and termination has also resulted in a reduction in the number of affected live births. Nonetheless, in the USA about 1500 children, and in the UK around 500 children are born each year with myelomeningocele (MMC) and so the management of MMC and its complications continues to constitute a significant clinical workload for many paediatric neurosurgical units around the world.Until recently, the options available following antenatal diagnosis of MMC were termination of pregnancy or postnatal repair. As a result of the MOMS trial, prenatal repair has become an additional option in selected cases (Adzick et al., N Engl J Med 364(11):993-1004, 2011). Fetal surgery for myelomeningocele is now offered in more than 30 centres worldwide. The aim of this chapter is to review the experimental basis of prenatal repair of MMC, to critically evaluate the neurosurgical implications of this intervention and to describe the technique of 'open' repair, comparing this with emerging minimally invasive alternatives.
Subject(s)
Fetal Therapies , Meningomyelocele , Neurosurgical Procedures , Child , Female , Humans , Pregnancy , Hospital Units , Meningomyelocele/surgery , VitaminsABSTRACT
This review summarises the classification, anatomy and embryogenesis of complex spinal cord lipomas and describes in some detail the technique of total lipoma resection and radical reconstruction of the affected neural placode. Its specific mission is to tackle two main issues surrounding the management of complex dysraphic lipomas: whether total resection confers better long-term benefits than partial resection and whether total resection does better than conservative treatment, i.e. no surgery, for asymptomatic lipomas. Accordingly, the 24-year progression-free survival data of the senior author and colleagues' series of over 300 cases of total resection are compared with historical data from multiple series (including our own) of partial resection, and total resection data specifically for asymptomatic lesions are compared with the two known series of non-surgical treatment of equivalent patients. These comparisons so far amply support the author's recommendation of total resection for most complex lipomas, with or without symptoms. The notable exception is the asymptomatic chaotic lipoma, whose peculiar anatomical relationship with the neural tissue defies even our aggressive surgical approach, and consequently projects worse results (admittedly of small number of cases) than for the other two lipoma subtypes of dorsal and transitional lesions. Prophylactic resection of asymptomatic chaotic lipomas is therefore not currently endorsed. We have also recently found that some dorsal lipomas with clear outline of the conus on preoperative imaging had a significantly better long-term prognosis of preserving neurourological functions without surgery. Whether this subset of lipomas should be managed conservatively until symptoms arise is now an open question awaiting a longer follow-up of a larger cohort of such patients.