Management of an older Marshall-Smith syndrome patient: a review of literature of MSS and craniosynostosis.

Marshall-Smith Syndrome (MSS) is a rare progressive developmental disorder that severely impairs a patient's intellectual development and physical health. The only known cause for MSS is a mutation in the nuclear factor 1 X (NFIX) gene. This mutation affects neuronal development and protein transcription. Historically, most patients with MSS do not survive beyond 3 years of age. Reports of ocular findings are limited. We report a case of a 9-year-old MSS patient with progressive craniosynostosis, elevated intracranial pressure, and catastrophic ocular complications. A comprehensive PubMed literature search from 2018 to August 2022 updating a previous review of older literature produced 72 articles relating to MSS, which are reviewed.

The Accreditation Council for Graduate Medical Education 20-Year Trends in Diversity, Equity, and Inclusion in the United States: How Does Neurological Surgery Compare?

BACKGROUND: Within the current medical workforce, diversity is limited among surgical specialties. However, diversity allows physicians to provide culturally competent care. This paper discusses the trends in racial, ethnic, and gender representation within different surgical subspecialties with an emphasis on neurosurgery over a 20-year time frame. METHODS: A retrospective review of data collected by the Accreditation Council for Graduate Medical Education over the past twenty years, as reported in Journal of the American Medical Association, was conducted. Residents from 5 surgical specialties were evaluated based on gender, race, and ethnic identifications from 2002 to 2022. One-way analysis of variance was performed to compare the levels and retention rates of racial, ethnic, and gender diversity within these specialties. RESULTS: Analysis of resident demographics of the 5 surgical specialties reveals an overall trend of increasing diversity over the study period. Over the past 20 years, neurosurgery had an overall increase in Asian (+5.1%), Hispanic (+3.0%), and female (+11.4%) residents, with a decrease in White residents by 2.1% and Black residents by 1.1%. Among the surgical specialties analyzed, otolaryngology had the greatest overall increase in minority residents. Notably, there has been an overall increase in female residents across all 5 surgical specialties, with the highest in otolaryngology (+20.3%) which was significantly more than neurosurgery (P < 0.001). CONCLUSIONS: This chronological analysis spanning 20 years demonstrates that neurosurgery, like other specialties, has seen a growth in several racial and ethnic categories. Relative differences are notable in neurosurgery, including Black, Asian, Hispanic, and White ethnic categories, with growth in females, but at a significantly lesser pace than seen in otolaryngology and plastic surgery.

Biopsy of diffuse midline glioma is safe and impacts targeted therapy: a systematic review and meta-analysis.

PURPOSE: To quantify the safety and utility of biopsy of pediatric diffuse midline glioma (DMG). METHODS: This study was conducted in accordance with PRISMA guidelines. PubMed, Embase, Scopus, and Web of Science were queried for relevant articles from inception until June 2023. Two reviewers identified all articles that included diagnostic yield, morbidity, and mortality rates for pediatric DMG patients. Studies that did not present original data or were not in English or peer-reviewed were excluded. Meta-analysis was conducted in R using Freeman-Tukey or logit transformation and DerSimonian-Laird random-effects models. The risk of bias was assessed using the Newcastle-Ottawa Scale. A protocol for this review was not registered. RESULTS: We identified 381 patients from ten studies that met all criteria. DMG biopsy is safe overall (0% mortality, 95% CI: 0-0.6%; 11.0% morbidity, 95% CI: 4.8-18.9%) and has a high diagnostic yield (99.9%, 95% CI: 98.5-100%). The use of stereotactic biopsy is a significant moderator of morbidity (p = 0.0238). Molecular targets can be identified in approximately 53.4% of tumors (95% CI: 37.0-69.0%), although targeted therapies are only delivered in about 33.5% of all cases (95% CI: 24.4-44.1%). Heterogeneity was high for morbidity and identification of targets. The risk of bias was low for all studies. CONCLUSION: We conducted the first meta-analysis of DMG biopsy to show that it is safe, effective, and able to identify relevant molecular targets that impact targeted therapy.

The landscape of current research on pediatric diffuse midline glioma: a quantitative analysis of shifts, leaders, and future avenues.

PURPOSE: Diffuse midline glioma (DMG) has seen a surge of research interest in recent years with the growth in knowledge of new avenues for potential treatments. However, no bibliometric review of the field has been conducted to visualize the current state of the field. Here, we use bibliometric mapping to visualize the knowledge structure, collaborations, and trends in the field. METHODS: A total of 1079 original and review articles from 1996 to 2023 on diffuse midline glioma were extracted from the Web of Science Core Collection on June 3, 2023. These files were analyzed with R and VOSviewer to construct bibliometric visualizations. RESULTS: Research interest in DMG has continued to grow, driven by publications of original research. Molecular characterization of DMG has been a key focus of recent literature, and terms relating to novel small molecules, mutations, immunotherapy, the blood-brain barrier, and liquid biopsy may be areas for future growth in the literature. Collaborating nations have generally been the North American and European nations, but other nations have begun to make their mark in the field. Leading and rising institutions and journals are described. CONCLUSION: Research in DMG may continue to focus on molecular characterization and new therapeutics based on this knowledge. Novel collaborations between rising nations and institutions in the field may aid in accelerating this research.

Congenital unilateral lower lip palsy: a case-based review.

BACKGROUND: Congenital unilateral lower lip palsy (CULLP), also referred to as congenital asymmetric crying facies (ACF), is a rare condition that causes pronounced depression of the unaffected lower lip when crying, despite symmetric appearance of the mouth and lips at rest. Unlike the acquired form of ACF, CULLP is idiopathic and often involves permanent defect. METHODS AND RESULTS: We present a case-based review of CULLP, including a thorough analysis of the relevant literature and a discussion of the exemplary case of 5-year-old patient presenting with unilateral facial asymmetry resulting from left-sided facial weakness. The patient was diagnosed with ACF at birth, and documentation from a previous neurologic consultation specifies the root cause of the asymmetry as developmental aplasia of the left depressor anguli oris muscle (DAOM). However, there is no record of electrodiagnostic testing or B-scan ultrasound imaging that would support this conclusion, and the patient's dysarthric speech may suggest lower motor neuron involvement. Botox chemodenervation of the right, unaffected side was recommended to deanimate the contralateral lower lip and achieve facial symmetry, in addition to potentially resolving some of the patient's speech difficulties. CONCLUSIONS: There are several approaches, both surgical and non-surgical, to the management and correction of CULLP. These include weakening the muscles of the contralateral side or increasing muscular tension on the ipsilateral side, referred to as deanimation and reanimation procedures, respectively.

Telehealth in Neurosurgery: 2021 Council of State Neurosurgical Societies National Survey Results.

OBJECTIVE: Telehealth was rapidly adopted during the COVID-19 pandemic. A survey was distributed to neurosurgeons in the United States (U.S.) to understand its use within neurosurgery, what barriers exist, unique issues related to neurosurgery, and opportunities for improvement. METHODS: A survey was distributed via email and used the SurveyMonkey platform. The survey was sent to 3828 practicing neurosurgeons within the U.S., 404 responses were collected between October 30, 2021 and December 4, 2021. RESULTS: During the pandemic, telehealth was used multiple times per week by 60.65% and used daily by an additional 12.78% of respondents. A supermajority (89.84%) of respondents felt that evaluating patients across state lines with telemedicine is beneficial. Most respondents (95.81%) believed that telehealth improves patient access to care. The major criticism of telehealth was the inability to perform a neurological exam. CONCLUSIONS: Telehealth has been widely implemented within the field of neurosurgery during the COVID-19 pandemic and has increased access to care. It has allowed patients to be evaluated remotely, including across state lines. While certain aspects of the neurological exam are suited for video evaluation, sensation and reflexes cannot be adequately assessed. Neurosurgeons believe that telehealth adds value to their ability to deliver care.

Neurosurgical management of patients with neurocutaneous melanosis: a systematic review.

OBJECTIVE: Neurocutaneous melanocytosis (NCM), also referred to as neurocutaneous melanosis, is a rare neurocutaneous disorder characterized by excess melanocytic proliferation in the skin, leptomeninges, and cranial parenchyma. NCM most often presents in pediatric patients within the first 2 years of life and is associated with high mortality due to proliferation of melanocytes in the brain. Prognosis is poor, as patients typically die within 3 years of symptom onset. Due to the rarity of NCM, there are no specific guidelines for management. The aims of this systematic review were to investigate approaches toward diagnosis and examine modern neurosurgical management of NCM. METHODS: A systematic review was performed using the PubMed database between April and December 2021 to identify relevant articles using PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. Search criteria were created and checked independently among the authors. Inclusion criteria specified unique studies and case reports of NCM patients in which relevant neurosurgical management was considered and/or applied. Exclusion criteria included studies that did not report associated neurological diagnoses and neuroimaging findings, clinical reports without novel observations, and those unavailable in the English language. All articles that met the study inclusion criteria were included and analyzed. RESULTS: A total of 26 extracted articles met inclusion criteria and were used for quantitative analysis, yielding a cumulative of 74 patients with NCM. These included 21 case reports, 1 case series, 2 retrospective cohort studies, 1 prospective cohort study, and 1 review. The mean patient age was 16.66 years (range 0.25-67 years), and most were male (76%). Seizures were the most frequently reported symptom (55%, 41/74 cases). Neurological diagnoses associated with NCM included epilepsy (45%, 33/74 cases), hydrocephalus (24%, 18/74 cases), Dandy-Walker malformation (24%, 18/74 cases), and primary CNS melanocytic tumors (23%, 17/74 cases). The most common surgical technique was CSF shunting (43%, 24/56 operations), with tethered cord release (4%, 2/56 operations) being the least frequently performed. CONCLUSIONS: Current management of NCM includes CSF shunting to reduce intracranial pressure, surgery, chemotherapy, radiotherapy, immunotherapy, and palliative care. Neurosurgical intervention can aid in the diagnosis of NCM through tissue biopsy and resection of lesions with surgical decompression. Further evidence is required to establish the clinical outcomes of this rare entity and to describe the diverse spectrum of intracranial and intraspinal abnormalities present.

Spinal arteriovenous malformation in a pediatric patient with a history of congenital syphilis: a case report.

BACKGROUND: Spinal arteriovenous malformations in children are extremely rare and pose great risk for intraoperative hemorrhage. Congenital syphilis sometimes presents with vascular symptoms, however, there is little published on patients with a history of congenital syphilis presenting with spinal arteriovenous malformations. CASE PRESENTATION: A 15-month-old female with a history of congenital syphilis presented with urinary retention, fever, and subacute onset of paraplegia. MRI showed a lesion at T8-L1, angiogram was performed which confirmed the presence of a complex type IVc arteriovenous malformation and fistula from Artery of Adamkiewicz at L1-L2. It also showed peri medullary dilated veins and a pseudoaneurysm that compressed the spinal cord at T8-T10. Somatosensory evoked potentials and motor-evoked potentials were not recordable on the bilateral lower extremities prior to surgery. Once the patient was optimized for surgery, osteoplastic laminotomies from T6-T12 were performed. The dura was opened and the intradural, intramesenchymal hematoma was evacuated. There were two episodes of brisk arterial bleeding with hypotension during resection of the hematoma. The patient was taken to the angiography suite from the OR to successfully coil the large aneurysm. Intraoperative spinal cord monitoring remained undetectable in the bilateral lower extremities. The patient's paraplegia remained unchanged from preoperative presentation. CONCLUSION: Congenital syphilis may present with vascular changes that might impact surgical approaches and treatment outcomes in patients with spinal arteriovenous malformations. Preparation for massive transfusion and intraoperative monitoring are imperative in ensuring a safe perioperative experience.

Reply to Oleske et al., Blood Lead Concentrations in Newark Children. Comment on "Franklin et al. Broken Promises to the People of Newark: A Historical Review of the Newark Uprising, the Newark Agreements, and Rutgers New Jersey Medical School's Commitments to Newark. Int. J. Environ. Res. Public Health 2021, 18, 2117".

We read, with tremendous gratitude, Dr. Oleske and Dr. Bogden's comment in the International Journal of Environmental Research and Public Health titled, "Blood Lead Concentrations in Newark Children" [...].

Broken Promises to the People of Newark: A Historical Review of the Newark Uprising, the Newark Agreements, and Rutgers New Jersey Medical School's Commitments to Newark.

Many have referred to the coronavirus disease 2019 crisis and intertwined issues of structural racism as "twin pandemics". As healthcare workers in Newark, New Jersey, a city heavily affected by the twin pandemics, we recognize that health workforce changes must be grounded in our community's recent history. The objective of this essay is to briefly describe the relationship between organized medicine, state and local leaders, and the people of Newark. We begin with a discussion of Newark in the 1950s and 1960s: its people experienced poor socioeconomic conditions, terrible medical care, and the many sequelae of abhorrent racism. Plans to establish a New Jersey Medical School in Newark's Central Ward also threatened to displace many residents from their homes. We then describe the Newark Agreements of 1968, which formalized a social contract between the state, business leaders, and people of Newark. In part, the Medical School committed to indefinitely promoting public health in Newark. We share progress towards this goal. Finally, we document key healthcare administrative decisions facing our community today. Stakeholder opinions are shared. We conclude that the Newark Agreements set an important standard for communities across the country. Creative solutions to healthcare policy may be realized through extensive community collaboration.

Developing a Professionalism and Harassment Policy for Organized Neurosurgery.

Annual conferences, educational courses, and other meetings draw a diverse community of individuals, yet also create a unique environment without the traditional guard rails. Unlike events held at one's home institution, clear rules and jurisdiction have not been universally established. To promote the open exchange of ideas, as well as an environment conducive to professional growth of all participants, the leading neurosurgical professional organizations joined forces to delineate the expectations for anyone who participates in sponsored events. The One Neurosurgery Summit Taskforce on Professionalism and Harassment developed a foundational policy that establishes common expectations for behavior and a unified roadmap for the prompt response to untoward events. We hope that publishing this policy will inspire other medical organizations to establish their own meeting and conference policies. More importantly, we wish to bring greater attention to everyone's responsibility for ensuring a safe and respectful space for education, scientific debate, and networking during organized events.

Topological Aberrance of Structural Brain Network Provides Quantitative Substrates of Post-Traumatic Brain Injury Attention Deficits in Children.

Background: Traumatic brain injury (TBI)-induced attention deficits are among the most common long-term cognitive consequences in children. Most of the existing studies attempting to understand the neuropathological underpinnings of cognitive and behavioral impairments in TBI have utilized heterogeneous samples and resulted in inconsistent findings. The current research proposed to investigate topological properties of the structural brain network in children with TBI and their relationship with post-TBI attention problems in a more homogeneous subgroup of children who had severe post-TBI attention deficits (TBI-A). Materials and Methods: A total of 31 children with TBI-A and 35 group-matched controls were involved in the study. Diffusion tensor imaging-based probabilistic tractography and graph theoretical techniques were used to construct the structural brain network in each subject. Network topological properties were calculated in both global level and regional (nodal) level. Between-group comparisons among the topological network measures and analyses for searching brain-behavioral were all corrected for multiple comparisons using Bonferroni method. Results: Compared with controls, the TBI-A group showed significantly higher nodal local efficiency and nodal clustering coefficient in left inferior frontal gyrus and right transverse temporal gyrus, whereas significantly lower nodal clustering coefficient in left supramarginal gyrus and lower nodal local efficiency in left parahippocampal gyrus. The temporal lobe topological alterations were significantly associated with the post-TBI inattentive and hyperactive symptoms in the TBI-A group. Conclusion: The results suggest that TBI-related structural re-modularity in the white matter subnetworks associated with temporal lobe may play a critical role in the onset of severe post-TBI attention deficits in children. These findings provide valuable input for understanding the neurobiological substrates of post-TBI attention deficits, and have the potential to serve as quantitatively measurable criteria guiding the development of more timely and tailored strategies for diagnoses and treatments to the affected individuals. Impact statement This study provides a new insight into the neurobiological substrates associated with post-traumatic brain injury attention deficits (TBI-A) in children, by evaluating topological alterations of the structural brain network. The results demonstrated that relative to group-matched controls, the children with TBI-A had significantly altered nodal local efficiency and nodal clustering coefficient in temporal lobe, which strongly linked to elevated inattentive and hyperactive symptoms in the TBI-A group. These findings suggested that white matter structural re-modularity in subnetworks associated with temporal lobe may serve as quantitatively measurable biomarkers for early prediction and diagnosis of post-TBI attention deficits in children.

Developing a professionalism and harassment policy for organized neurosurgery.

Annual conferences, educational courses, and other meetings draw a diverse community of individuals, yet also create a unique environment without the traditional guard rails. Unlike events held at one's home institution, clear rules and jurisdiction have not been universally established. To promote the open exchange of ideas, as well as an environment conducive to professional growth of all participants, the leading neurosurgical professional organizations joined to delineate the expectations for anyone who participates in sponsored events. The One Neurosurgery Summit Taskforce on Professionalism and Harassment developed a foundational policy that establishes common expectations for behavior and a unified roadmap for the prompt response to untoward events. We hope that publishing this policy will inspire other medical organizations to establish their own meeting and conference policies. More importantly, we wish to bring greater attention to everyone's responsibility for ensuring a safe and respectful space for education, scientific debate, and networking during organized events.

Chiari I malformation with Klippel-Trenaunay syndrome: case report and review of the literature.

We present a rare case of an 8-year-old male with Klippel-Trenaunay syndrome (KTS) and a Chiari I malformation (CIM). Magnetic resonance imaging (MRI) to investigate facial asymmetry and speech delay at age two revealed CIM with cerebellar tonsils 1.3 cm below the foramen magnum without syringomyelia. The patient underwent a craniectomy and posterior fossa decompression with C1 laminectomy. While gene sequencing determined the patient was negative for the PIK3CA gene mutation, the patient's clinical history strongly suggests KTS. He has hemihypertrophy, leg length discrepancy, hemangiomas and pigmentary mosaicism along the upper and lower extremities, heart murmur, chronic low heart rate, recurrent hip pain, and mild scoliosis. Neurodevelopmental concerns include difficulty reading, attention deficit hyperactivity disorder (ADHD), anxiety, and difficulty running and going downstairs. His most recent MRI shows good decompression at the cervicomedullary junction, global cerebrospinal fluid (CSF) flow, and less peg-like cerebellar tonsils. Also noted were two intravertebral hemangiomas at T5 and T6. While the patient's speech has improved, there is still difficulty with the expressive language. He still has mild delays, runs slowly, and does not alternate feet when climbing stairs. The patient is being followed by multiple specialists including neurology, hematology-oncology, genetics, orthopedic surgery, and developmental pediatrics.

The utilization of sodium fluorescein in pediatric brain stem gliomas: a case report and review of the literature.

INTRODUCTION: A major challenge in the surgical resection of brainstem tumors is distinguishing tumor from normal tissue. One approach for addressing this problem is the use of fluorescent tracers such as sodium fluorescein (NaFl). NaFl disseminates through a disruption in the blood-brain barrier (BBB) and accumulates in the extracellular space of brain tumors. Intraoperative fluorescence microscopy can be performed to identify tumor tissue and avoid damage to adjacent, normal tissue. Here, we present the case of a 16-year-old male who underwent a left retrosigmoid craniotomy with splitting of the tentorium to remove a large exophytic brainstem tumor involving the cerebellar peduncle and with superior extension into the midbrain and thalamus. OBJECTIVES: The primary objective of this study was to investigate the effectiveness of sodium fluorescein as an intraoperative technique and evaluate its potential benefit for resection of tumors in eloquent regions in the pediatric population. To do so, we focused on a case study approach; however, we also performed a literature review and evaluated different intraoperative fluorescent techniques and their benefits for tumor resection. METHODS: We performed a literature search using PubMed and Google Scholar by the key words "sodium fluorescein," "brain stem tumor," and "central nervous system neoplasms." Twenty-nine articles including both pediatric and adult populations were selected for analysis and qualitative review. RESULTS: In this case study, sodium fluorescein helped the surgeons to identify and obtain a gross total resection of a large brainstem tumor. The marker was especially helpful for discerning the inferior pole of the tumor buried inconspicuously in cerebellar tissue. We evaluate different fluorescent tracers, 5-ALA and ICG, and discuss their application and benefits in tumor resection surgery. We present different cases that found sodium fluorescein to be helpful in achieving a gross total resection. CONCLUSION: The application of sodium fluorescein proved to be a safe and effective technique for the resection of brain stem tumors as shown in this case study. It helped to expose concealed areas and illuminate the tumor capsule. Further studies should test the clinical use of sodium fluorescein on brain stem tumor resection.

Sodium Fluorescein-Guided Gross Total Resection of Pediatric Exophytic Brainstem Glioma: 2-Dimensional Operative Video.

Brainstem gliomas comprise 10% to 20% of pediatric intracranial tumors.1 Gross total resection is associated with the greatest long-term survival.1 However, due to the eloquence of surrounding brain tissue, an aggressive resection is not always achievable and can be associated with significant risk.2 Sodium fluorescein can be used to help differentiate between tumor and normal tissue.3,4 In this operative video, we demonstrate the step-by-step technique to utilize fluorescence in surgically resecting an exophytic glioma arising from the midbrain in a 16-yr-old male. Technical nuances are highlighted in this operative video, including the use of the YELLOW 560 (Zeiss) filter to differentiate fluorescent tumor from normal tissue as well as strategic splitting of the tentorium to expose the supratentorial component of the tumor. A decrease in motor potentials of the right leg during the case did not translate into neurological worsening postoperatively; at 3-mo follow-up, the patient attests to better strength and coordination on his affected side. In summary, sodium fluorescein can be used as a critical adjunctive tool for successful surgery in the case of a brainstem tumor. Alternatives to this procedure included gross total resection with 5-aminolevulinic acid, subtotal resection with chemotherapy, and active monitoring, but were not chosen due to their limitations in this clinical case.5-7 Appropriate patient consent was obtained to perform this procedure and present this clinical case and surgical video for academic purposes.