Preservation of endocrine function after Ommaya reservoir insertion in children with cystic craniopharyngioma.

INTRODUCTION: Children with craniopharyngiomas (CP) can experience significant morbidities caused by extensive surgery and/or radiation. Ommaya reservoir insertion (ORI) into cystic CP represents a minimally invasive approach allowing immediate decompression and aims to avoid additional injuries. The purpose of this study was to determine the surgical outcome and relevance of upfront ORI (± intracystic treatment) for preservation of endocrine function. METHODS: We performed a retrospective chart review of children with CP treated at the Hospital for Sick Children between 01/01/2000 and 15/01/2020. Endocrine function was reviewed at the time of initial surgery and throughout follow-up. New endocrinological deficits related to the index procedure were defined as immediate failure (IF), whereas postoperative duration of endocrinological stability (ES) was analyzed using the Kaplan-Meier method. The rate of IF and ES was compared between the treatment groups. RESULTS: Seventy-nine patients were included and had a median age of 8.3 years (range 2.1-18.0 years); 31 were males. Fifty-three patients with upfront surgical treatment, including 29 ORI and 24 gross total or partial resections had sufficient endocrinological follow-up data. Endocrine dysfunction occurring immediately after the index procedure (IF) was observed in 15 patients (62.5%) in the resection group compared to two patients (6.8%) in the ORI group, odds ratio: 0.05 (CI: 0.01-0.26, p < 0.0001). Excluding those with immediate endocrinological deficits, mean ES after ORI was 19.4 months (CI: 11.6-34.2), compared to 13.4 months (CI:10.6-NA) after surgical resection. CONCLUSIONS: Endocrine function was preserved in patients with upfront ORI (± intracystic treatment), which was confirmed as a minimally invasive procedure with an overall low morbidity profile.

The rationale and development of a CyberKnife© registry for pediatric patients with CNS lesions.

BACKGROUND: CyberKnife© Radiosurgery (CKRS) is a recognized treatment concept for CNS lesions in adults due to its high precision and efficacy beside a high patient comfort. However, scientific evidence for this treatment modality in pediatric patients is scarce. A dedicated registry was designed to document CyberKnife© procedures in children, aiming to test the hypothesis that it is safe and efficient for the treatment of CNS lesions. METHODS: The CyberKnife© registry is designed as a retrospective and prospective multicenter observational study (German Clinical Trials Register ( https://www.drks.de ), DRKS-ID 00016973). Patient recruitment will be ongoing throughout a 5-year period and includes collection of demographic, treatment, clinical, and imaging data. Follow-up results will be monitored for 10 years. All data will be registered in a centralized electronic database at the Charité-Universitätsmedizin. The primary endpoint is stable disease for benign and vascular lesions at 5 years of follow-up and local tumor control for malign lesions at 1- and 2-year follow-up. Secondary endpoints are radiation toxicity, side effects, and neurocognitive development. CONCLUSION: The CyberKnife© registry intends to generate scientific evidence for all treatment- and outcome-related aspects in pediatric patients with treated CNS lesions. The registry may define safety and efficacy of CKRS in children and serve as a basis for future clinical trials, inter-methodological comparisons and changes of treatment algorithms.

Selective dorsal rhizotomy for spasticity of genetic etiology.

Objective Selective dorsal rhizotomy (SDR) is most commonly applied in the context of the treatment of the spastic diplegic variant of cerebral palsy (CP). Its role in the treatment of spasticity associated with other conditions is not well-established. We sought to review outcomes following SDR for the treatment of functionally limiting spasticity in the setting of a genetic etiology. Methods A systematic literature review was performed using the databases Ovid Medline, Embase, Cochrane Library, and PubMed based on the PRISMA guidelines. Articles were included if they described the application of SDR for spasticity of genetic etiology. Reported outcomes pertaining to spasticity and gross motor function following SDR were summarized. Results Five articles reporting on 16 patients (10 males, 6 females) met the inclusion criteria, of which four reported on SDR for hereditary spastic paraplegia (HSP) and four on syndromic patients or other inherited diseases, with an overall follow-up ranging from 11 to 252 months. These individuals were found to have several genetic mutations including ALS2, SPG4, and SPG3A. The mean age at the time of surgery was 14.9 years (median 10 years, range 3-37 years). Conclusions Although all patients experienced a reduction in spasticity, the long-term gross motor functional outcomes objectively assessed at last follow-up were heterogeneous. There may be a role for SDR in the context of static genetic disorders causing spasticity. Further evidence is required prior to the widespread adoption of SDR for such disorders as, based on the collective observations of this review, spasticity is consistently reduced but the long-term effect on gross motor function remains unclear.

Awake brain surgery in children-a single-center experience.

INTRODUCTION: Awake brain surgery (ABS) represents a rare surgical procedure in children as age and psychological aspects, which are considered to interfere with its feasibility and psychological outcome and limit its application. Only few pediatric case series have been reported so far, indicating a more complex translation of this surgical approach to children. However, the advances in neuropsychological testing and monitoring may have a substantial impact on ameliorating the eligibility of children undergoing awake procedures. This study addresses the condition of ABS in a pediatric cohort, focusing on its practicability and diversified outcome aspects. METHODS: We performed a retrospective review and prospective outcome analysis of pediatric patients with CNS lesions undergoing ABS between 2005 and 2018, completed at the University of Lyon, France. RESULTS: Eighteen children were considered for ABS with respect to the eloquent location of their CNS lesions documented in their pre-operative MRI. Seventeen of them underwent asleep-awake-asleep brain surgery. The cohort included 5 males and 12 females. The median age at surgery was 14.8 years, (range 9.4 to 17.6 years). Intraoperative testing included electrocortical stimulation while pursuing speech or motor activity. Most of the lesions were intrinsic tumors of glial origin. A complete tumor removal was achieved in 11 patients (65%). Post-operative neurological deficits were transiently observed in 2 patients, whereas severe psychological reactions occurred in 1 child. Persistent attention deficits were found in 2 patients. One patient experienced an infectious complication requiring antibiotic treatment. Two patients died during follow-up due to tumor progression. The mean duration of follow up was 22.2 months (range 3.4 to 46.8 months). CONCLUSIONS: ABS was shown to be beneficial in terms of efficient tumor resection besides simultaneous preservation of neurological functions. Psychological preparation of the families and the children is essential to increase the number and age range of patients, who can benefit from this technique. Neuropsychological testing before and after surgery is essential to determine cognitive outcome, which can be altered in a minority of patients.

Psychological aspects of awake brain surgery in children-interests and risks.

Awake brain surgery (ABS) in children remains a subject of controversial debate for the potential psychological limitations that are related to this type of procedure. However, the tolerance and benefits of ABS in adults advocate for increased application of ABS in children. In this study, we report the psychological assessment, evaluation algorithm, and outcome of pediatric patients, who underwent ABS for surgical treatment of lesions in eloquent areas. Psychological selection criteria and the specifications of psychological support are described. A retrospective review and analysis of psychological assessment and psychological outcome of pediatric patients, who underwent ABS between 2005 and 2018 at the Department of pediatric neurosurgery, University of Lyon, France, was performed. Long-term psychological outcomes are reported. ABS was proposed to 18 children aged between 9 and 17 years and their families. After psychological evaluation of the individual patient and their familial surrounding, five boys and 12 girls (n = 17) were accounted eligible for ABS. They underwent asleep-awake-asleep brain surgery with intraoperative testing. In 16 cases, ABS could be performed as planned. Psychological alterations were postoperatively observed in 3 patients, symptoms of a post-traumatic stress disorder in 1 patient. The precise preoperative evaluation of the risk-benefit ratio in children plays a crucial role in anticipating a good psychological outcome. Professional psychological preparation and support of the child and his or her family are the key elements for successful completion of ABS.

Awake brain surgery in children-review of the literature and state-of-the-art.

OBJECTIVE: Awake brain surgery (ABS) is poorly reported in children as it is considered having limited indications due to age and neuropsychological aspects interfering with its feasibility and psychological outcome. The aim of this article is to review the current state-of-the-art of ABS in children and to offer an objective summary of the published literature on diversified outcome aspects of pediatric awake procedures. METHODS: A literature review was performed using the MEDLINE (PubMed) electronic database applying the following MeSH terms to the keyword search within titles and abstracts: "awake brain surgery children," "awake brain surgery pediatric," "awake craniotomy children," "awake craniotomy pediatric," and "awake surgery children." Of the initial 753 results obtained from these keyword searches, a full text screening of 51 publications was performed, ultimately resulting in 18 eligible articles for this review. RESULTS: A total of 18 full text articles reporting the results of 50 patients were included in the analysis. Sixteen of the 18 studies were retrospective studies, comprising 7 case series, 9 case reports, and 2 reviews. Eleven studies were conducted from anesthesiological (25 patients) and 7 from neurosurgical (25 patients) departments. Most of the patients underwent ABS for supratentorial lesions (26 patients), followed by epilepsy surgery (16 patients) and deep brain stimulation (DBS) (8 patients). The median age was 15 years (range 8-17 years). Persistent deficits occurred in 6 patients, (12%), corresponding to minor motor palsies (4%) and neuropsychological concerns (8%). An awake procedure was aborted in 2 patients (4%) due to cooperation failure and anxiety, respectively. CONCLUSIONS: Despite well-documented beneficial aspects, ABS remains mainly limited to adults. This review confirms a reliable tolerability of ABS in selected children; however, recommendations and guidelines for its standardized implementation in this patient group are pending. Recommendations and guidelines may address diagnostic workup and intra-operative handling besides criteria of eligibility, psychological preparation, and coordinated neuropsychological testing in order to routinely offer ABS to children.

Prevalence and severity of positional plagiocephaly in children and adolescents.

OBJECT: Though positional posterior plagiocephaly (PPP) is considered common in infants since the pediatric recommendations of "Back to Sleep", several aspects of its natural history still remain unclear. The aim of this study is to understand the actual prevalence and severity of PPP in children and adolescents. METHODS: Head CT scans performed for head trauma during the period September 2016-September 2017 were retrospectively analyzed in a total of 165 children ranging from 0 to 18 years of age (101 boys). Cranial vault asymmetry index (CVAI) was calculated at the level of the superior orbital rim. CVAI values greater 3.5% was considered index of asymmetry. The results were analyzed according to different age groups: group I: 1 month to 1 year of age (37 children), group II: 2 to 4 years (32 children), group III: 5 to 8 years (36 children), group IV: 9 to 12 years (27 children), and group V: 13 to 18 years (33 children) and the severity of asymmetry according to CVAI values: mild group (CVAI range 3.5-7%), moderate group (CVAI range 7-12%), and severe group (CVAI > 12%). RESULT: The total prevalence of PPP in the 165 children was 25%. While the prevalence in infants of group I was estimated to be 40.5%, it was 15.6% in group II, 30.5% in group III, 18.5% in group IV, and 12% in group V. The mean and maximum degrees of deformation were 3.5% and 15.1%, respectively. Most children had a mild asymmetry. One child (group II) presented a severe asymmetry. The degree of the asymmetry varied according to the groups but moderate asymmetry could be found at all ages even in groups IV and V. CONCLUSION: This study analyzing PPP in an unselected unbiased pediatric population shows that PPP has a high prevalence in adolescents. It confirms that the prevalence of deformational plagiocephaly is more common than usually reported and that PPP may persist at a late age.

Efficacy, safety and outcome of frameless image-guided robotic radiosurgery for brain metastases after whole brain radiotherapy.

Estimating efficacy, safety and outcome of frameless image-guided robotic radiosurgery for the treatment of recurrent brain metastases after whole brain radiotherapy (WBRT). We performed a retrospective single-center analysis including patients with recurrent brain metastases after WBRT, who have been treated with single session radiosurgery, using the CyberKnife® Radiosurgery System (CKRS) (Accuray Inc., CA) between 2011 and 2016. The primary end point was local tumor control, whereas secondary end points were distant tumor control, treatment-related toxicity and overall survival. 36 patients with 140 recurrent brain metastases underwent 46 single session CKRS treatments. Twenty one patients had multiple brain metastases (58%). The mean interval between WBRT and CKRS accounted for 2 years (range 0.2-7 years). The median number of treated metastases per treatment session was five (range 1-12) with a tumor volume of 1.26 ccm (mean) and a median tumor dose of 18 Gy prescribed to the 70% isodose line. Two patients experienced local tumor recurrence within the 1st year after treatment and 13 patients (36%) developed novel brain metastases. Nine of these patients underwent additional one to three CKRS treatments. Eight patients (22.2%) showed treatment-related radiation reactions on MRI, three with clinical symptoms. Median overall survival was 19 months after CKRS. The actuarial 1-year local control rate was 94.2%. CKRS has proven to be locally effective and safe due to high local tumor control rates and low toxicity. Thus CKRS offers a reliable salvage treatment option for recurrent brain metastases after WBRT.

Intraoperative biomarkers in renal transplantation.

The emerging need for biomarkers in the management of renal transplantation is highlighted by the severity of related complications such as acute renal failure and ischaemia/reperfusion injury (IRI) and by the increasing efforts to identify novel markers of these events to predict and monitor delayed graft function (DGF) and long-term outcome. In clinical studies candidate markers such as kidney injury molecule-1, neutrophil gelatinase-associated lipocalin and interleukin-18 have been demonstrated to be valid biomarkers with high predictive value for DFG in a post-transplant setting. However, studies investigating biomarkers for early diagnosis of IRI and assumable DGF as well as identification of potential graft recipients at increased risk at the time point of transplantation lack further confirmation and translation into clinical practice. This review summarizes the current literature on the value of IRI biomarkers in outcome prediction following renal transplantation as well their capacity as surrogate end points from an intraoperative perspective.

Congenital cervicothoracic dissociation: report of two cases.

PURPOSE: Congenital cervicothoracic dissociation (CCTD) of the spine is a rare condition while having major impacts on stability and neurological function. Surgical treatment includes decompression and instrumented fusion. Only few cases of CCTD have been reported in children. This report intends to demonstrate the complexity of this condition and its surgical management options based on two cases. METHODS: Retrospective illustration of two cases with CCTD treated with instrumented occipito-thoracic fusion. Timing and options of surgical management are discussed. RESULTS: Two patients aged 9 and 12 were treated. Patient 1 presented with asymmetric chronic weakness of the upper extremity and unstable neurogenic bladder. Imaging showed a CCTD with severe distortion of the posterior facets and a dysplastic spinal cord. Patient 2 presented with mild spasticity and unilateral weakness of the upper extremity. A low energy trauma resulted in tetraplegia by increasing the amount of antero-posterior displacement. Both patients were treated with Halo vest application, followed by posterior decompression, and instrumented occipito-thoracic fusion. Additional upfront Halo traction was applied in patient 2 for distraction and sagittal alignment improvement. The last follow-up confirmed solid fusion and minor residual neurological impairment in both patients at 5, and 6 years, respectively. CONCLUSION: CCTD is a rare congenital condition, which can be successfully managed by posterior instrumented fusion. A sudden cervicothoracic displacement with neurological deterioration may respond to careful Halo traction with preoperative sagittal alignment correction. Timing of surgery depends on the actual instability in neurologically stable patients.

An update on multimodal management of craniopharyngioma in children.

Craniopharyngioma (CP) represent 1.2-4.6% of all intracranial tumors in children and carry a significant morbidity due to their lesional intimacy with structures involved in neurological, visual, and endocrinological functions. Variable treatment modalities being available, including surgery, radiation therapy, alternative surgeries, and intracystic therapies or combinations of them, their common goal is to reduce immediate and long-term morbidity while preserving these functions. Multiple attempts have been made to re-evaluate surgical and irradiation strategies in order to optimize their complication and morbidity profile. However, despite significant advances in "function sparing" approaches, such as limited surgery and improved technologies of radiation therapies, achieving interdisciplinary consensus on the optimal treatment algorithm remains a challenge. Furthermore, there remains a significant span of improvement given the number of specialties involved as well as the complex and chronic nature of CP disease. This perspective article aims to summarize recent changes and knowledge gains in the field of pediatric CP, outlining updated treatment recommendations, a concept of integrative interdisciplinary care and the implication of novel potential diagnostic tools. A comprehensive update on the multimodal treatment of pediatric CP is presented, focusing on "function-preserving" therapies and their implications.

Transorbital penetrating head injury with a favorable outcome: illustrative case.

BACKGROUND: Transorbital penetrating head injuries (PHIs) are uncommon but can lead to substantial deficits, depending on intracranial involvement and the neuroanatomical structures affected. Complete recovery after such injuries is rare. OBSERVATIONS: A 7-year-old boy sustained a PHI when he fell onto a garden spike while climbing a fence. Initial imaging showed an orbital roof fracture, focal subarachnoid hemorrhage, and an intraparenchymal hemorrhage in the right frontal lobe with associated linear tract extending to the contralateral superior temporal gyrus. Relevant neuroanatomical structures, including the anterior cerebral arteries (ACAs) and the basal ganglia, were spared. This is in keeping with superior transorbital PHI caused by a garden spike, which had transgressed the skull entering from the right superior orbit. Clinically, he experienced some transient right-sided weakness and mild speech disturbance. Some questionable vasospasm of the ACAs observed on interim magnetic resonance imaging was absent in a repeat imaging study, followed by an unremarkable radiographic follow-up at 6 months after injury. At 18 months after injury, he is neurologically intact without deficit. LESSONS: Most PHIs bear serious lifelong consequences, but here was a case of a deep, penetrating object that managed to avoid all significant neuroanatomical pathways, leading to complete recovery in follow-up.

Regulation, approval, and access of spinal implants in low-middle-income countries: a narrative review and case study.

INTRODUCTION: Spinal implants play a vital role in healthcare delivery, and regulations are necessary to ensure their quality, approval, access, and use. In this article, we examine the current state of regulation and approval procedures for medical devices in low- and middle-income countries (LMICs), emphasizing the situation in Tanzania. AREAS COVERED: We conducted a systematic literature search and interviewed a local spine implant representative to investigate the approval, availability, and access of surgical and spinal implants in LMICs, particularly in Africa. Out of the 18 included articles, six referred to African regulations, with no mention of spinal implants. Our analysis revealed that LMICs face challenges in accessing implants due to affordability, poor supply chain, and lack of expertise for their application. However, surgeons have found alternative solutions, such as using lower-cost implants from Turkish manufacturers. The Tanzania Medical Devices and Drugs Authority oversees the local regulatory and approval process for implants. EXPERT OPINION: Regulation and accessibility of spinal implants in LMICs, particularly in Africa, are limited and negatively impact patient care and best medical practice. Potential solutions include capacity building within and collaboration among regulatory organizations to improve regulatory processes and allocating financial resources to qualitative and quantitative implant access.

Current Treatment Management of Aneurysmal Subarachnoid Hemorrhage with Prevailing Trends and Results in Tanzania: A Single-Center Experience at Muhimbili Orthopedic and Neurosurgery Institute.

BACKGROUND: In Africa, no cerebral aneurysm treatment guidelines exist. Epidemiology, management, and outcomes after aneurysmal subarachnoid hemorrhage (aSAH) remain poorly understood, with many underdiagnosed cases. Muhimbili Orthopaedic and Neurosurgery Institute (MOI) is the only neurosurgical referral center in Tanzania. The aim of this study is to describe the current aSAH management with regional outcomes and limitations. METHODS: Patients with aSAH confirmed by computed tomography/magnetic resonance angiography between February 2019 and June 2021 were retrospectively studied. The analyzed parameters included demographics, clinical/radiologic characteristics, injury characteristics, and the modified Rankin Scale (mRS) score. RESULTS: In total, 22 patients, with a female/male ratio of 1.4 and a median age of 54 years (interquartile range [IQR], 47.2-63 years) harboring 24 aneurysms were analyzed. Thirteen patients (59.1%) paid out of pocket. The median distance traveled by patients was 537 km (IQR, 34.7-635 km). The median time between admission and treatment was 12 days (IQR, 3.2-39 days). The most common symptoms were headache (n = 20; 90.9%) and high blood pressure (n = 10; 45.4%). Nine patients (40.9%) had Fisher grade 1 and 12 (54.5%) World Federation of Neurosurgical Societies grade I. The most common aneurysms were of the middle cerebral artery (7/29.2%). Fourteen patients (63.6%) underwent clipping; of those, only 4 (28.6%) were operated on within 72 hours. Mortality was 62.5% in the nonsurgical group. Among clipped patients, 78.6% showed favorable outcomes, with no mortality. Endovascular treatment is not available in Tanzania. CONCLUSIONS: To our best knowledge, this is the first study highlighting aSAH management in Tanzania, with its assets and shortcomings. Our data show pertinent differences among international treatment guidelines, with the resultant outcomes, such as high preoperative mortality resulting from delayed/postponed treatment. Regional difficult circumstances notwithstanding, our long-term goal is to significantly improve the overall management of aSAH in Tanzania.

Applications of Frameless Image-Guided Robotic Stereotactic Radiotherapy and Radiosurgery in Pediatric Neuro-Oncology: A Systematic Review.

BACKGROUND: CyberKnife-based robotic radiosurgery (RRS) is a widely used treatment modality for various benign and malignant tumors of the central nervous system (CNS) in adults due to its high precision, favorable safety profile, and efficacy. Although RRS is emerging in pediatric neuro-oncology, scientific evidence for treatment indications, treatment parameters, and patient outcomes is scarce. This systematic review summarizes the current experience and evidence for RRS and robotic stereotactic radiotherapy (RSRT) in pediatric neuro-oncology. METHODS: We performed a systematic review based on the databases Ovid Medline, Embase, Cochrane Library, and PubMed to identify studies and published articles reporting on RRS and RSRT treatments in pediatric neuro-oncology. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were applied herein. Articles were included if they described the application of RRS and RSRT in pediatric neuro-oncological patients. The quality of the articles was assessed based on their evidence level and their risk for bias using the original as well as an adapted version of the Newcastle Ottawa Quality Assessment Scale (NOS). Only articles published until 1 August 2021, were included. RESULTS: A total of 23 articles were included after final review and removal of duplicates. Articles reported on a broad variety of CNS entities with various treatment indications. A majority of publications lacked substantial sample sizes and a prospective study design. Several reports included adult patients, thereby limiting the possibility of data extraction and analysis of pediatric patients. RRS and RSRT were mostly used in the setting of adjuvant, palliative, and salvage treatments with decent local control rates and acceptable short-to-intermediate-term toxicity. However, follow-up durations were limited. The evidence level was IV for all studies; the NOS score ranged between four and six, while the overall risk of bias was moderate to low. CONCLUSION: Publications on RRS and RSRT and their application in pediatric neuro-oncology are rare and lack high-quality evidence with respect to entity-related treatment standards and long-term outcomes. The limited data suggest that RRS and RSRT could be efficient treatment modalities, especially for children who are unsuitable for surgical interventions, suffer from tumor recurrences, or require palliative treatments. Nevertheless, the potential short-term and long-term adverse events must be kept in mind when choosing such a treatment. Prospective studies are necessary to determine the actual utility of RRS and RSRT in pediatric neuro-oncology.

Craniocervical Instability in Ehlers-Danlos Syndrome-A Systematic Review of Diagnostic and Surgical Treatment Criteria.

STUDY DESIGN: Systematic review. OBJECTIVE: Ehlers-Danlos Syndrome (EDS) comprises a spectrum of connective tissue disorders, which may be associated with cranio-cervical instability (CCI). There is a lack of consensus on diagnostic imaging parameters, indications, and outcomes of surgical treatment. METHODS: This systematic review analyses the literature on diagnostic methods and/or criteria for CCI, screening the databases Ovid Medline, Embase, Cochrane Library, and PubMed. Articles were included based on the PRISMA guidelines and assessed using the Newcastle-Ottawa Quality Assessment Scale (NOS) and according to their evidence level. RESULTS: Sixteen articles, including 78 surgical patients, met the inclusion criteria. The main diagnostic measures for CCI were dynamic x-rays and CT imaging. Ten different radiographic parameters were reported, of which 4 were the most frequently applied for surgical decision-making: the clivo-axial angle (CXA), the Harris measurement, the Grabb-Mapstone-Oakes measurement, and the angular displacement of C1 to C2. The evidence level ranged between III and V and the article quality between 4 and 8 out of 9 stars on the NOS Scale. CONCLUSIONS: There is a lack of high quality, prospective evidence regarding the evaluation of suspected CCI in patients with EDS. Based on our systematic review, we recommend that the CXA, Harris measurement, Grabb-Mapstone-Oakes measurement, and the angular displacement of C1 to C2 be used to evaluate suspected CCI in EDS patients. Surgical fixation of suspected CCI should only be performed in cases with clear radiographic presence of instability and concordant symptoms/signs. Consensus-based guidelines and care pathways are required.

Spinal manifestations of Ehlers-Danlos syndrome: a scoping review.

OBJECTIVE: Since its initial description, the definition of Ehlers-Danlos syndrome (EDS) has notably changed. At present, it broadly refers to disorders of the connective tissue that are heritable and have similar features including joint hypermobility, dermal dysplasia, and vascular as well as internal organ fragility. There has been no comprehensive review of spinal manifestations of EDS in the recent literature. That has led to controversies in management protocols of this so-called orphan disease. METHODS: The authors used the latest version of the EDS classification from 2017, in which 13 subtypes were recognized. EDS has 19 different causal genes, mainly associated with collagen synthesis. Of these, 5 subtypes have associated spinal manifestations. RESULTS: Some of the spinal pathologies associated with EDS include Chiari malformation, craniocervical instability, kyphoscoliosis, segmental instability and kyphosis, spontaneous CSF leaks, Tarlov cyst syndrome, tethered cord, and problems associated with wound healing. Here, the authors briefly discuss the demographics, etiology, pathophysiology, clinical features, management strategies, and directions for further research for each of these manifestations. CONCLUSIONS: EDS belongs to the group of orphan diseases, with the total patient population being below 200,000. Further research on spinal manifestations of EDS is the need of the hour to establish clinical practice guidelines and close the significant knowledge gaps that currently exist.

Minimally invasive surgery for spinal cerebrospinal fluid-venous fistula ligation: patient series.

BACKGROUND: Cerebrospinal fluid-venous fistulas (CVFs) may cause cerebrospinal fluid leaks resulting in spontaneous intracranial hypotension (SIH). Surgical treatment of CVFs aims to eliminate abnormal fistulous connections between the subarachnoid space and the epidural venous plexus at the level of the nerve root sleeve. The authors propose a percutaneous minimally invasive technique for surgical ligation of CVF as an alternative to the traditional open approach using a tubular retractor system. OBSERVATIONS: Minimally invasive surgical (MIS) ligation of spinal CVF was performed in 5 patients for 6 CVFs. The definite disconnection of the CVF was achieved in all patients by clipping and additional silk tie ligation of the fistula. None of the patients experienced surgical complications or required transition to an open procedure. One patient underwent 2 MIS procedures for 2 separate CVFs. Postoperative clinical follow-up and cranial magnetic resonance imaging confirmed resolution of symptoms and radiographic SIH stigmata. LESSONS: MIS ligation of CVFs is safe and efficient. It represents an elegant and less invasive procedure, reducing the risk of wound infections and time to recovery. However, preparedness for open ligation is warranted within the same surgical setting in cases of complications and difficult accessibility.

Optic Pathway Glioma in Children with Neurofibromatosis Type 1: A Multidisciplinary Entity, Posing Dilemmas in Diagnosis and Management Multidisciplinary Management of Optic Pathway Glioma in Children with Neurofibromatosis Type 1.

Introduction: Neurofibromatosis type 1 (NF1) has an incidence of 1 in 2,000 to 3,000 individuals and in 15% is associated with optic pathway glioma (OPG). Given the variability in clinical presentation and related morbidity, a multidisciplinary approach for diagnosis and management of children with NF1 and OPG is required, but often lacks coordination and regular information exchange. Herein we summarize our experience and describe the care pathways/network provided by a multidisciplinary team. The role of the distinct team members is elucidated as well as the care amendments made over time. Methods: We performed a retrospective single-center observational study, including children treated at our institution between 1990 and 2021. Inclusion criteria were clinical diagnosis of NF1, radiographic and/or histopathological diagnosis of OPG and age below 18 years. Patients being treated elsewhere were excluded from the study. Data was abstracted from each child's health record using a standardized data collection form. Characteristics of children with NF1 and OPG were described using means (SD) and percentages. Outcomes were determined using Kaplan-Meier estimates. Results: From 1990 to 2021, 1,337 children were followed in our institution. Of those, 195 were diagnosed with OPG (14.6%), including 94 (48.21%) females and 101 (51.79%) males. Comprehensive data were available in 150 patients. The mean (SD) age at diagnosis was 5.31(4.08) years (range: 0.8-17.04 years). Sixty-two (41.3%) patients remained stable and did not undergo treatment, whereas 88 (58.7%) patients required at least one treatment. The mean (SD) duration of follow up was 8.14 (5.46) years (range: 0.1-25.9 years; median 6.8 years). Overall survival was of 23.6 years (±1.08), comprising 5 deaths. A dedicated NF clinic, including pediatricians and a nurse, provides regular follow up and plays a central role in the management of children with NF1, identifying those at risk of OPG, coordinating referrals to Neuroradiology and other specialists as indicated. All children are assessed annually by Ophthalmology. Comprehensive care was provided by a multidisciplinary team consisting of Dermatology, Genetics, Neuro-oncology, Neuroradiology, Neurosurgery, Ophthalmology and Pediatrics. Conclusions: The care of children with NF1 and OPG is optimized with a multidisciplinary team approach, coordinated by a central specialty clinic.