Spinal Atypical Teratoid Rhabdoid Tumor in a 14-year-old Child With Down Syndrome: A Case Report.

Individuals with 21 trisomy or Down syndrome (DS) are known to have an increased risk of acute leukemia, while they rarely develop solid or central nervous system (CNS) tumors. Atypical teratoid rhabdoid tumor (ATRT) is a highly aggressive CNS-WHO grade 4 neoplasm, which has never been reported in association with Down syndrome. We present a case study of a 14-year-old female with Down syndrome, diagnosed with intradural-extramedullary spinal ATRT. The chief complaints included bilateral lower limb weakness, constipation, and urinary incontinence for 2 weeks. Surgery was scheduled, and a biopsy was taken. The histopathology, immunohistochemistry, and molecular analysis confirmed the diagnosis of the ATRT-MYC/group 2B subgroup. This report highlights the challenges of managing a patient with complex medical conditions. Moreover, it adds to the existing literature on CNS tumors in patients with Down syndrome.

Capacity building for pediatric neuro-oncology in Pakistan- a project by my child matters program of Foundation S.

Introduction: Initiated in June 2019, this collaborative effort involved 15 public and private sector hospitals in Pakistan. The primary objective was to enhance the capacity for pediatric neuro-oncology (PNO) care, supported by a My Child Matters/Foundation S grant. Methods: We aimed to establish and operate Multidisciplinary Tumor Boards (MTBs) on a national scale, covering 76% of the population (185.7 million people). In response to the COVID-19 pandemic, MTBs transitioned to videoconferencing. Fifteen hospitals with essential infrastructure participated, holding monthly sessions addressing diagnostic and treatment challenges. Patient cases were anonymized for confidentiality. Educational initiatives, originally planned as in-person events, shifted to a virtual format, enabling continued implementation and collaboration despite pandemic constraints. Results: A total of 124 meetings were conducted, addressing 545 cases. To augment knowledge, awareness, and expertise, over 40 longitudinal lectures were organized for healthcare professionals engaged in PNO care. Additionally, two symposia with international collaborators and keynote speakers were also held to raise national awareness. The project achieved significant milestones, including the development of standardized national treatment protocols for low-grade glioma, medulloblastoma, and high-grade glioma. Further protocols are currently under development. Notably, Pakistan's first pediatric neuro-oncology fellowship program was launched, producing two graduates and increasing the number of trained pediatric neuro-oncologists in the country to three. Discussion: The initiative exemplifies the potential for capacity building in PNO within low-middle income countries. Success is attributed to intra-national twinning programs, emphasizing collaborative efforts. Efforts are underway to establish a national case registry for PNO, ensuring a comprehensive and organized approach to monitoring and managing cases. This collaborative initiative, supported by the My Child Matters/Foundation S grant, showcases the success of capacity building in pediatric neuro-oncology in low-middle income countries. The establishment of treatment protocols, fellowship programs, and regional tumor boards highlights the potential for sustainable improvements in PNO care.

Psychosocial factors influencing quality of life in patients with primary brain tumors in Pakistan: an analytical cross-sectional study.

OBJECTIVE: Despite quality of life (QoL) being recognized as an important outcome in neuro-oncology, there is a lack of research from Pakistan where sociocultural differences may influence QoL. This study aimed to measure the QoL in patients with primary brain tumors (PBTs) and assess its association with mental health outcomes and social support. RESULTS: Our study included a total of 250 patients, with a median age of 42 years (range 33-54 years). The commonest brain tumors were glioma (46.8%) and meningioma (21.2). The mean global QoL of the sample was 75.73 ± 14.9. The majority of patients had high social support (97.6%) and were not depressed (90%) or anxious (91.6%). On multivariable linear regression, global QoL was inversely associated with no or low income (beta coefficients: -8.75 to -11.84), having hypertension (-5.53), currently using a urine catheter (-13.55), having low social support (-28.16) suffering from mild (-15.31) or symptomatic (-23.84) depression, or mild anxiety (-13.22).

Factors affecting well-being in brain tumor patients: An LMIC perspective.

Introduction: Brain tumor is a devastating and often fatal diagnosis; quality of life and patient well-being are important goals of treatment. This study addresses the gap in culture-specific literature exploring the needs and coping strategies of brain tumor patients within an LMIC setting. Methodology: A qualitative approach was undertaken using an exploratory descriptive study design. In-depth interviews were conducted to capture the perspective of 250 brain tumor patients at a private tertiary center followed by extensive content analysis to identify major themes and sub-themes across responses. Results: The analysis identified three major themes: (i) Factors affecting the lives of brain tumor survivors (BTSs) and their impact (ii) What works to improve QoL according to the survivors' perspectives, and (iii) Coping tactics & fostering healthy relationships. The need for financial navigation strategies improved patient-physician relationships, and reinforcing positive coping strategies were emphasized. Conclusion: In our population, family support and spiritual connection played an important role in helping patients mitigate the psychosocial burden of illness. However, financial concerns were pervasive and need to be addressed for better overall well-being.

Building the ecosystem for pediatric neuro-oncology care in Pakistan: Results of a 7-year long twinning program between Canada and Pakistan.

BACKGROUND: Low- and middle-income countries sustain the majority of pediatric cancer burden, with significantly poorer survival rates compared to high-income countries. Collaboration between institutions in low- and middle-income countries and high-income countries is one of the ways to improve cancer outcomes. METHODS: Patient characteristics and effects of a pediatric neuro-oncology twinning program between the Hospital for Sick Children in Toronto, Canada and several hospitals in Karachi, Pakistan over 7 years are described in this article. RESULTS: A total of 460 patients were included in the study. The most common primary central nervous system tumors were low-grade gliomas (26.7%), followed by medulloblastomas (18%), high-grade gliomas (15%), ependymomas (11%), and craniopharyngiomas (11.7%). Changes to the proposed management plans were made in consultation with expert physicians from the Hospital for Sick Children in Toronto, Canada. On average, 24% of the discussed cases required a change in the original management plan over the course of the twinning program. However, a decreasing trend in change in management plans was observed, from 36% during the first 3.5 years to 16% in the last 3 years. This program also led to the launch of a national pediatric neuro-oncology telemedicine program in Pakistan. CONCLUSIONS: Multidisciplinary and collaborative efforts by experts from across the world have aided in the correct diagnosis and treatment of children with brain tumors and helped establish local treatment protocols. This experience may be a model for other low- and middle-income countries that are planning on creating similar programs.

Covid-19-Related Suicides in Pakistan, India, and Bangladesh: Can we Rely on Reporting System? A Rapid Systematic Review.

Purpose of Review: With other life-altering changes, Covid-19 pandemic has brought a mental health crisis upon the global community. Untreated psychological disturbances can lead to tragic outcomes such as suicide. Currently, the most feasible way to know the true burden of Covid-related suicides is through media reports. However, the standards of media-reported suicide cases and their compliance to WHO checklist of suicide reporting in Pakistan, India, and Bangladesh are concerning. The question that arises here is if we can truly rely on the media reporting system of these countries to establish exposure-causality relationship. We've attempted to gather the evidence of reporting sources of Covid-related suicide cases in Pakistan, India, and Bangladesh. We've conducted a systematic review in accordance with the PRISMA guidelines to identify the media-reported cases of COVID-related suicides. Recent Findings: After compilation of the results, it was observed that most of the reported cases were from India (74.2%) whereas males died of suicide more often than females. When risk of bias was assessed using Pierson's method, it was observed that 70% of the studies had high risk of bias. Summary: We've attempted to gather the evidence of reporting sources of Covid-related suicide cases in Pakistan, India, and Bangladesh and found that nearly all media reports hadn't followed the WHO reporting guidelines for suicide cases. This could lead to a false sense of panic among the general population.

Translation and validation of the Urdu version of the European organization for research and treatment of cancer core quality of life questionnaire (EORTC QLQ-C30) and brain module (QLQ-BN20) in primary brain tumor patients.

INTRODUCTION: This study translated and validated the Urdu version of the European Organization for Research and Treatment of Cancer Quality of Life (QoL) Questionnaire (EORTC QLQ-C30) and Brain Module (QLQ-BN20) amongst patients with primary brain tumors (PBT) in Pakistan, and assessed the correlation of QoL with resilience, depression, and anxiety. METHODS: Translation of the EORTC QLQ-C30 and QLQ-BN20 was performed as per EORTC guidelines. A survey comprising of Urdu translations of EORTC QLQ-C30, QLQ-BN20, Wagnild and Young Resilience Scale (RS-14) and Hospital Anxiety and Depression Scale was administered to patients with PBT at a tertiary care hospital in Pakistan. Reliability (via Cronbach alpha), content validity index (CVI) scores, construct validity, and inter-scale correlations were assessed. RESULTS: Our sample consisted of 250 patients with PBT, most commonly glioma (46.8%) and meningioma (21.2%). All patients were able to understand the Urdu translations. The Cronbach alphas for the QLQ-C30 and the QLQ-BN20 were 0.860 and 0.880, respectively. The CVI scores for clarity and relevance were high for both the EORTC QLQ-C30 (0.98 and 0.96, respectively) and the QLQ-BN20 tool (0.81 and 0.95, respectively). The global QoL domain (EORTC QLQ-C30) showed significant positive correlations with resilience (r = 0.422), and significant negative correlations with depression (r = - 0.541) and anxiety (r = - 0.502). Strong inter-scale correlations were observed between physical functioning and insomnia (r = - 0.690) and role functioning and insomnia (r = - 0.641). CONCLUSION: Our study confirms the Urdu versions of the EORTC QLQ-C30 and QLQ-BN20 as valid clinical tools for the measurement of QoL in primary brain tumors patients within the cultural and socioeconomic context of Pakistan.

Quality of life (QoL) is an important facet of well-being for patients with primary brain tumors (PBTs), as these individuals face significant distress during the course of their illness and treatment. It is important to have valid and reliable tools to accurately measure the QoL of patients with PBTs. The EORTC QLQ-C30 (European Organization for Research and Treatment of Cancer Quality of Life Questionnaire) and its brain tumor-specific module EORTC QLQ-BN20 (EORTC QLQ-Brain Neoplasms 20) are exactly that.However, the use of the EORTC QLQ-C30 and QLQ-BN20 is limited in Pakistan, where the national language is Urdu, and the majority of patients are of low socioeconomic backgrounds. Since no Urdu translations of the EORTC QLQ-C30 and QLQ-BN20 exist, we aimed to translate and validate these tools to enable their applicability in Pakistan.The Urdu versions of the EORTC QLQ-C30 and QLQ-BN20 demonstrated good validity amongst patients with PBTs. Thus, our study confirms the EORTC QLQ-C30 and QLQ-BN20 as valuable clinical tools for the measurement of QoL in primary brain tumors patients within the linguistic, cultural and socioeconomic context of Pakistan.

Resilience and its associated factors in brain tumor patients in Karachi, Pakistan: An analytical cross-sectional study.

OBJECTIVES: This study assessed resilience in brain tumor patients at a tertiary care hospital in Pakistan (a lower middle-income country; LMIC) and explored its relationship with patients' sociodemographic factors, clinical characteristics, social support, and mental health. METHODS: A cross-sectional survey was conducted amongst adult (≥18 years) patients with brain tumor at the Aga Khan University Hospital, Pakistan. Resilience was assessed by Wagnild and Young's Resilience Scale, and patients' psychosocial characteristics by the Hospital Anxiety and Depression Scale and the Enriched Social Support Instrument. RESULTS: A total of 250 patients were included (mean age: 44 years; 68% males), with majority (97.6%) having high social support and only 4.4% and 2% having symptomatic depression and anxiety, respectively. On multivariable linear regression adjusted for covariates, lower resilience was associated with not being involved in household decision-making (Adjusted Beta Coefficient: 4.58 [95% Confidence Interval:-7.59, -1.56]), not currently working (-2.80 [-4.61, -0.99]), undergoing multiple neurosurgical interventions such as tumor biopsies or resections (-8.64 [-13.11, -4.16]), receiving chemotherapy (-5.17 [-9.51, -0.83]) or combination adjuvant therapy (-2.91 [-5.14, -0.67]), low social support (-7.77 [-13.73, 1.81]), mild depression (-13.00 [-17.00,-8.99]) or symptomatic depression (-19.79 [-24.69, -14.89]), and mild anxiety (-4.24 [-7.98, -0.50]). CONCLUSION: Our study highlights the function of familial/household role and working status in mediating resilience, and demonstrates the well-known protective effect of resilience for mental health in brain tumor patients in Pakistan, a South-Asian LMIC. These findings are of clinical relevance with regards to the development of culture-specific evidence-based resilience-building interventions that may help patients with brain tumors to cope with the psychological distress of cancer.

Chronic hypertrophic malunion of C2 Fracture causing cervical quadriparesis; Case report and focused literature review.

BACKGROUND: Pseudarthrosis of Type II C2 odontoid fractures typically leads to displacement and subluxation resulting in canal compression/cervical myelopathy. CASE DESCRIPTION: Here, we present a 43-year-old male who sustained cervical trauma 28 years ago. He now presented with an acute 10-day onset of quadriparesis attributed to a chronic malunion of an unstable type II odontoid fracture. He successfully underwent a circumferential decompression and fusion (e.g., warranting a trans-oral odontoidectomy followed by C1-C3 posterior fusion). CONCLUSION: Progressive cervical myelopathy attributed to a chronic malunion of a type II odontoid fracture may require circumferential decompression/stabilization (e.g., an anterior decompression with osteophyte resection and posterior C1-C3 spinal stabilization).

Ossification of the Cruciform Ligament of Atlas; a Rare Cause of Cervical Myelopathy: Case Report and Review of Literature.

We present a case of cervical myelopathy secondary to ossification of the cruciform ligament (also known as cruciate ligament). This is a rare phenomenon that, to the best of our knowledge, has only been reported 16 times previously in literature. We have added a review of literature after our case presentation. We hope that by doing so, we may aid clinicians reach early diagnosis so as to be able to better manage this rare disease.

Endovascular Coiling Versus Neurosurgical Clipping for Aneurysmal Subarachnoid Hemorrhage: A Systematic Review and Meta-analysis.

Background Aneurysmal subarachnoid hemorrhage is a frequently devastating condition with a reported incidence of between 10 and 15 people per 100,000 in the United States. Currently, according to the best of our knowledge, there are not enough meta-analyses available in the medical literature of the last five years which compare the risks and benefits of endovascular coiling with neurosurgical clipping. Methods Twenty-two studies were selected out of the short-listed studies. The studies were selected on the basis of relevance to the topic, sample size, sampling technique, and randomization. Data were analyzed on Revman software. Results Mortality was found to be significantly higher in the endovascular coiling group (odds ratio (OR): 1.17; confidence interval (CI): 95%, 1.04, 1.32). Re-bleeding was significantly higher in endovascular coiling (OR: 2.87; CI: 95%, 1.67, 4.93). Post-procedure complications were significantly higher in neurosurgical clipping compared to endovascular coiling (OR: 0.36; CI: 95%, 0.24, 0.56). Neurosurgical clipping was a 3.82 times better surgical technique in terms of re-bleeding (Z = 3.82, p = 0.0001). Neurosurgical clipping is a better technique requiring fewer re-treatments compared to endovascular coiling (OR: 4.64; CI: 95%, 2.31, 9.29). Endovascular coiling was found to be a better technique as it requires less rehabilitation compared to neurosurgical clipping (OR: 0.75; CI: 95%, 0.64,0.87). Conclusion Neurosurgical clipping provides better results in terms of mortality, re-bleeding, and re-treatments. Endovascular coiling is a better surgical technique in terms of post-operative complications, favorable outcomes, and rehabilitation.

Dermoid cyst with no intracranial extension: A case report and literature review.

BACKGROUND: Dermoid cysts are cystic inclusion tumors. They comprise hair follicles, sweat glands, and sebaceous glands. They have lining of stratified squamous epithelium. The most common areas involved are face, lower back, and ovaries. Congenital cystic dermoid involving the anterior fontanelle with no intracranial extension is a rare scalp swelling. We present a case of dermoid cyst with no intracranial extension. CASE DESCRIPTION: We report a case of 4-month-old child presented with a history of a scalp swelling since birth. The swelling increased in size progressively. Magnetic resonance imaging of the brain revealed extracranial cystic lesion over anterior fontanelle with no intracranial extension. Cyst was excised completely with no postoperative complications. On histopathology it was dermoid cyst. CONCLUSION: To the best of our knowledge, congenital dermoid cyst of the anterior fontanelles is rare. Complete surgical excision is the treatment of choice.

CD133 Expression in Glioblastoma Multiforme: A Literature Review.

Glioblastoma, also known as glioblastoma multiforme (GBM), is the most common primary brain tumor. Extensive research has been carried out to discover the factors associated with the course and progression of GBM. CD133 is a glycoprotein antigen found in normal and malignant tissues. CD133 has been recognized as a marker for the growth of cancer cells. The association between this tissue marker and GBM is being investigated. The aim of this review was to evaluate the role of CD133 as a tumor marker for the prognosis of GBM.

Third Ventricular Tumors: A Comprehensive Literature Review.

Third ventricle tumors are uncommon and account for 0.6 - 0.9% of all the brain tumors. Tumors of the third ventricle are classified into primary tumors, such as colloid cysts, choroid plexus papillomas, and ependymomas, or secondary tumors, such as craniopharyngiomas, optic nerve gliomas, pineal tumors, and meningiomas. Third ventricular tumors are uncommon, and their treatment involves significant morbidity and mortality. The colloid cyst has a better surgical outcome and many approaches are available to achieve a complete cure. Choroid plexus papilloma is also a common tumor documented with its treatment majorly based on surgical resection. In addition to multiple treatment options for craniopharyngiomas, surgery is the most preferred treatment option. Ependymomas also have few treatment options, with surgical resection adopted as the first line of treatment.

Role Of Radiosurgery In Arteriovenous Malformations.

BACKGROUND: Intracranial arteriovenous malformations (AVMs) consist of an abnormal nidus of blood vessels that shunt blood directly from an artery to a vein and thereby bypass an intervening capillary bed. AVMs may be found as an incidental finding. They may be associated with intracranial haemorrhage, seizures, headaches or neurological deficits. There are different treatment options for AVM. These include observation, microsurgery, Stereotactic radio surgery (SRS), endovascular embolization and intensity modulated radiotherapy (IMRT). METHODS: Data was collected using searching engines like Pubmed, Google scholar, Embase, Cinahl and Medline. MeSH and Non-MeSH terms were used like Arterio-venous malformations, microsurgery, endovascular embolization. RESULTS: Multiple interventional radiosurgical techniques have been introduced in recent years. The most effective and least risk-associated methods are Stereotactic radiosurgery, Microsurgery, Embolization and Intensity modulated radiotherapy (IMRT). However, the outcome of such treatment modalities depends upon Site of malformation, grade of AVM, patient's age/gender, dose and volume of radiosurgery. Digital substraction angiography (DSA) and MR angiography (MRA) are most suitable methods for the follow-up of AVMs. CONCLUSIONS: Stereotactic radiosurgery is the most suitable technique for AVMs considering the good prognosis and the risks associated with this procedure. However, large AVMs require multidisciplinary approach for better results.

Comparison of Decompression Alone Versus Decompression with Fusion for Stenotic Lumbar Spine: A Systematic Review and Meta-analysis.

The first line of treatment for lumbar spinal stenosis (with or without lumbar degenerative spondylolisthesis) involves conservative options such as anti-inflammatory drugs and analgesics. Approximately, 10%-15% of patients require surgery. Surgical treatment aims to decompress the spinal canal and dural sac from degenerative bony and ligamentous overgrowth. Different studies have given conflicting results. The aim of our study is to clear the confusion by comparing two surgical techniques. This meta-analysis was conducted in accordance with the preferred reporting items for systematic reviews and meta-analysis (PRISMA) guidelines. A literature search was conducted of the Ovid Embase, Scopus, Pubmed, Ovid Medline, Google Scholar, and Cochrane library databases. A quality and risk of bias assessment was also done. The analysis was done using Revman software (The Nordic Cochrane Centre, The Cochrane Collaboration, 2014, Copenhagen, Denmark). A total of 76 studies were extracted from the literature search and 29 studies with relevant information were shortlisted. Nine studies were included in the meta-analysis after a quality assessment and eligibility. Fusion with decompression surgery was found to be a better technique when compared to decompression alone for spinal stenosis in terms of the Oswestry Disability index and the visual analog pain scale for back and leg pain. On the basis of the meta-analysis of the recent medical literature, the authors concluded that decompression with fusion is a 3.5-times better surgical technique than decompression alone for spinal stenosis.

Development of Criteria Highly Suggestive of Spinal Tuberculosis.

BACKGROUND: In a developing country there is a need for development of criteria that can be used for the diagnosis of spinal tuberculosis, which is common in that region. METHODS: Demographic, clinical, and radiologic features of spinal tuberculosis and spinal epidural tumors have been compared statistically, and inferences have been drawn in terms of P values, sensitivity, specificity, positive predictive values, and negative predictive values. RESULTS: A statistically significant relationship was found between spinal tuberculosis and spinal pain, fever, gradually progressive lower limb weakness, contrast-enhancing epidural ± paravertebral lesions, continuous levels affected, spinal deformity, and raised erythrocyte sedimentation rate. CONCLUSIONS: These relationships were considered the most probable criteria for the diagnosis of spinal tuberculosis.

Outcome Of Traumatic Brain Injury In Children By Using Rotterdam Score On Computed Tomography.

BACKGROUND: The Rotterdam Score (RS) on CT head is a new evolving clinical tool as a predictor of mortality in Traumatic Brain Injury (TBI). The objective of this study is to assess the outcome of children with TBI admitted in paediatric intensive care unit (PICU) of a tertiary-care, university hospital by using RS. METHODS: This was a prospective observational study conducted on children (age: 1mo -16yr) with TBI admitted in PICU of Aga Khan University Hospital from 2013 to 2016. RS on CT was calculated by a radiologist. All patients were managed according to according to Paediatric Brain Trauma Foundation Guidelines 2012.Demographic data, clinical variables and outcomes were recorded. Logistic regression analysis was applied to assess the association between outcome and R.. RESULTS: Ninety-two cases were enrolled during four years. The median age was 77 months (3 months to 16 years) and 73 (79%) were male. The main cause of injury was RTA (60.9%) followed by fall (39.1%). Sixty-two patients (67%) had a post-resuscitation GCS of 8 or less. 54% (51) patients were managed conservatively. The RS of 1, 2, 3, 4 and 5 were present in 19, 36,19,15 and 3 patients. The mean RS was 2.4. The higher mortality rate was observed in high RS. The RS was significantly associated with mortality (OR 1.75, 95% CI 1.03-2.95; p<0.04). CONCLUSIONS: Rotterdam Score on CT head can be used to predict mortality in paediatric patients with TBI.