Variable Clinical Presentation Research Articles

Cardiomyopathy in Children and Adolescents in the Era of Precision Medicine.

In childhood and adolescence, cardiomyopathies have their own characteristics and are an important cause of heart failure, arrhythmias, sudden death, and indication for heart transplantation. Diagnosis is a challenge in daily practice due to its varied clinical presentation, heterogeneous etiologies, and limited knowledge of tools related to clinical and molecular genetics. However, it is essential to recognize the different phenotypes and prioritize the search for the etiology. Recent advances in precision medicine have made molecular diagnosis accessible, which makes it possible to individualize therapeutic approaches, stratify the prognosis, and identify individuals in the family who are at risk of developing the disease. The objective of this review is to emphasize the particularities of cardiomyopathies in pediatrics and how the individualized approach impacts the therapy and prognosis of the patient. Through a systematized approach, the five-stage protocol used in our service is presented. These stages bring together clinical evaluation for determining the morphofunctional phenotype, identification of etiology, classification, establishment of prognosis, and the search for personalized therapies.

Management of Thoracic Empyema in Children: A Survey of Indian Pediatricians, Pediatric Surgeons, Pulmonologists, and Intensivists

ABSTRACT Background: Empyema thoracis poses a clinical conundrum due to its diverse clinical presentations and management options. Aims and Objectives: The study aimed to investigate the variability in clinical practice across centres and disciplines in the management of empyema in children. Materials and Methods: An online questionnaire focusing on paediatric empyema management was circulated among clinicians in India. Data on demographics, clinical experience, treatment modalities, and intervention indications were collected, and responses were analysed. Results: The survey amongst 252 participants uncovered notable discrepancies in the viewpoints of pediatricians and pediatric surgeons on the use of fibrinolytic and the indication for video assisted thoracoscopic surgery in pediatric thoracic empyema. While surgeons tended to favour surgical interventions, paediatricians leaned towards conservative management and fibrinolytic therapy. Conclusion: This study highlights substantial differences in clinical practice and underscores the need for standardized guidelines and interdisciplinary collaboration to optimize patient care and outcomes.

Castleman Disease: A Rare Lymphoproliferative Disorder With Diverse Clinical Presentation, Diagnosis, and Treatment Approach.

Castleman disease (CD) includes rare and intricate lymphoproliferative disorders characterized by the abnormal growth of lymph nodes and immune system disturbances. It primarily presents in two forms: unicentric Castleman disease (UCD), which affects a single lymph node area, and multicentric Castleman disease (MCD), which involves multiple lymph nodes and systemic manifestations. The disease's underlying mechanisms are often linked to immune system irregularities, especially involving interleukin-6 (IL-6). The condition was first documented by Dr. Benjamin Castleman in 1954, laying the groundwork for understanding this complex disorder. MCD can be further divided into idiopathic MCD (iMCD), which includes thrombocytopenia, ascites, fibrosis, renal impairment, and organ enlargement (TAFRO) syndrome, and human herpesvirus-8 (HHV-8)-associated MCD, which can occur in individuals with or without HIV. The prevalence of CD shows a higher occurrence of UCD, with the disease typically presenting in individuals in their fifth to seventh decades of life and being more common in areas with high HIV prevalence. The clinical presentation of CD can include symptoms such as swollen lymph nodes, fever, anemia, and systemic inflammation. Diagnostic challenges arise due to the disease's rarity, and its symptoms overlap with other conditions. Treatment approaches differ based on the subtype. UCD generally responds favorably to the surgical removal of the affected lymph nodes, while MCD often requires antiviral treatments, interleukin-6 (IL-6) inhibitors, and new biologictherapies. Recent advances in treatment, including innovative biologic agents and combination therapies, offer promising prospects for improving patient outcomes. Accurate diagnosis and customized treatment strategies are essential for the effective management of this complex disease.

"Amr Sign": A Case-Control Study Evaluating the Diagnostic Value of a New Clinical Sign in the Diagnosis of Acute Appendicitis.

Introduction Acute appendicitis, a prevalent cause of acute abdominal pain and a common indication for emergency surgery, presents a diagnostic challenge due to its diverse clinical presentation and variability in appendix location and symptoms. Traditional diagnostic approaches, including physical examination, clinical scoring systems, and imaging techniques, have limitations. This study introduces the "Amr sign," a new diagnostic indicator characterized by sudden reflex hyperextension of the neck upon palpation of the right iliac fossa, which is hypothesized to reflect local peritoneal irritation from an inflamed appendix. Methods We conducted a prospective observational study at Alwakra Hospital from November 2016 to January 2019 that included 195 patients aged 15 years and older with right iliac fossa pain and an Alvarado score of four or more. The "Amr sign" was evaluated alongside standard clinical examination and imaging results. Diagnostic accuracy was assessed via histopathological confirmation, which is the gold standard. Results The "Amr sign" had a sensitivity of 68.6% and a specificity of 67.3%. The positive predictive value (PPV) was 89%, whereas the negative predictive value (NPV) was 45%. Receiver operating characteristic (ROC) analysis revealed an area under the curve (AUC) of 0.679 for the "Amr sign" compared with 0.622 for the other imaging modalities, suggesting comparable diagnostic performance. The "Amr sign" demonstrated a higher likelihood ratio of a positive test (2.3) and a lower likelihood ratio of a negative test (0.46). Conclusion The "Amr sign" is a promising diagnostic tool for acute appendicitis, offering a simple, reliable, and quick test that can be performed by less experienced physicians. While its sensitivity and specificity are moderate, its high PPV suggests that it is particularly useful in confirming appendicitis. Further research and validation are needed to fully establish its role in clinical practice.

Hypertrophic Cardiomyopathy: From Medical Treatment to Advanced Heart Failure Therapies.

There has been much debate surrounding novel medical therapies and heart transplantation listing challenges in patients with hypertrophic cardiomyopathy (HCM). Recent clinical trials led to FDA approval of mavacamten (a cardiac myosin inhibitor), offering symptom relief and potentially delaying/avoiding invasive septal reduction therapies for some patients with HCM and left ventricular outflow obstruction (LVOTO). For those with refractory symptoms and end-stage heart failure, heart transplantation remains the gold standard. However, the concern for the organ allocation system failing to prioritize those individuals persists. HCM is a heterogeneous genetic condition with variable penetration and clinical presentation. Even though a large portion of patients remain asymptomatic, an important minority develops debilitating symptoms refractory to medical therapy. Post-HT short- and long-term outcomes are favorable. However, HT waitlist mortality remains high. For highly selected patients with HCM, a left ventricular assist device is a viable option.

Diagnostic Efficacy of Multimodal Ultrasound for Mass and Non-Mass Enhancements in Dynamic Contrast-Enhanced MRI of Idiopathic Granulomatous Mastitis and Breast Cancer

PurposeIdiopathic granulomatous mastitis (IGM) poses diagnostic challenges due to its diverse clinical and radiological presentations, often mimicking malignancies. This study aimed to assess the diagnostic efficacy of multimodal ultrasound for mass and non-mass enhancements in Dynamic Contrast-Enhanced MRI (DCE-MRI) of IGM and breast cancer. MethodsA retrospective analysis involved patients confirmed histopathologically with IGM and BC. All patients underwent conventional ultrasound (C-US), ultrasound elastography (UE), contrast-enhanced ultrasound (CEUS), and DCE-MR examinations. Blind experienced radiologists assessed imaging findings. Diagnostic accuracy, sensitivity, and specificity were calculated for mass and non-mass enhancements. ResultsFor mass enhancements (ME), multimodal ultrasound demonstrated strong efficacy (AUC = 0.8651, 95% CI: 0.7431 to 0.9871), exhibiting high sensitivity (83.3%) and specificity (92.4%) in differentiating IGM from breast cancer. However, for non-mass enhancements (NME), multimodal ultrasound showed limited accuracy (AUC = 0.6306) with lower sensitivity (65.6%) and specificity (81.2%) in distinguishing between IGM and breast cancer. ConclusionMultimodal ultrasound displayed good diagnostic efficacy for mass enhancements in DCE-MRI for idiopathic granulomatous mastitis and breast cancer, while for non-mass enhancement patterns, DCE-MRI remains the most valuable radiological modality for comprehensively assessing this condition's complexities.

Clinical spectrum of tuberculosis in adolescents (10–19 years) in a tertiary care center of North India

Background\\objectivesThere is limited literature available to characterize tuberculosis (TB) in adolescents despite them sharing a high burden of the disease. Ours is the first prospective study in India and worldwide to study the clinical profile of tuberculosis in adolescents aged 10–19 years.Methods: We enrolled 82 children and adolescents between March 2021 to March 2022. The diagnosis of TB was made on the basis of National Tuberculosis Elimination Program (NTEP) guidelines 2020. Adolescents were divided into 3 age groups: early (10–13 years), middle (14–17 years), and late adolescents (18–19 years)and the results were compared among the three groups. A two-sided p value of <0.05 was considered statistically significant.Results: The middle age adolescents comprised majority of our study population and females were more than males. The common presenting features were fever, chest pain, breathing difficulty with majority belonging to lower socioeconomic status. The pulmonary TB accounted for 56% and extrapulmonary constituted 44% of the cases. The notable extrapulmonary cases were disseminated TB with secondary lymphangiectasia, compressive myelopathy, sacroiliac joint arthropathy among others. Infiltrates/consolidation were the most frequent radiological findings in patients with pulmonary TB. The microbiological confirmation was available in 44% of the cases. The microbiological positivity was higher in histopathological specimens and in late adolescents. Two patients were rifampicin resistant. Conclusion: There was a varied clinical presentation of TB in this population. The extrapulmonary cases as well as the microbiological yield increased with increasing age of the cases.

Imaging in Erdheim-Chester Disease.

Erdheim-Chester disease (ECD) is a rare, multisystemic, inflammatory, non-Langerhans cell histiocytic neoplasm. The discovery of recurrent and somatic mutations in the mitogen-activated protein kinase signaling pathway, most commonly BRAFV600E, has led to a reclassification of ECD from an inflammatory disorder to a neoplastic process. It is now included in the revised 2016 World Health Organization classification of hematopoietic tumors and in the Langerhans group in the revised 2016 Histiocytosis Classification of the Histiocyte Society. When symptomatic, ECD most commonly manifests with bone pain and fatigue. Also, neurologic manifestations, central diabetes insipidus, exophthalmos, and periorbital xanthelasma-like lesions are frequently encountered. Pathologic findings may vary depending on the site of biopsy and may display a spectrum of features. Thus, due to the diverse clinical presentation and variable histologic findings, imaging can often show the first sign of the disease. Radiologic findings are, however, interpreted in conjunction with clinical and histologic findings to establish the diagnosis of ECD. From providing classic findings that facilitate diagnosis to helping radiologists determine the extent of disease and predicting a prognosis, the role of radiology in ECD has evolved with the understanding of the disease itself. Insights into the molecular pathogenesis and the development of targeted therapeutic agents along with approval of vemurafenib and cobimetinib have necessitated revision of the guidelines for the management of ECD. The authors discuss various radiologic findings of ECD and differential diagnoses by using an organ system-based approach and briefly describe the revised consensus recommendations for evaluation, diagnosis, and treatment based on the International Medical Symposia on ECD from a radiologist's perspective. ©RSNA, 2024 Supplemental material is available for this article. The full digital presentation is available online.

DUSP5 deficiency suppresses the progression of acute kidney injury by enhancing autophagy through AMPK/ULK1 pathway

Acute kidney injury (AKI) represents a critical clinical disease characterized by the rapid decline in renal function, carrying a substantial burden of morbidity and mortality. The treatment of AKI is frequently limited by its variable clinical presentations and intricate pathophysiology, highlighting the urgent need for a deeper understanding of its pathogenesis and potential therapeutic targets. Dual-specific protein phosphatase 5 (DUSP5), a member of the serine-threonine phosphatase family, possesses the capability to dephosphorylate extracellular regulated protein kinases (ERK). DUSP5 has emerged as a pivotal player in modulating metabolic signals, inflammatory responses, and cancer progression, while also being closely associated with various kidney diseases. This study systematically scrutinized the function and mechanism of DUSP5 in AKI for the first time, unveiling a substantial increase in DUSP5 expression during AKI. Moreover, DUSP5 knockdown was observed to attenuate the production of inflammatory factors and apoptotic cells in renal tubular epithelial cells by enhancing AMPK/ULK1-mediated autophagy, thus improving renal function. In a word, DUSP5 knockdown in AKI effectively impede disease progression by activating autophagy. This finding holds promise for introducing fresh perspectives and targets for AKI treatment.

Self-mutilation of external genital organs in a Schizophrenic patient

Self-mutilation of genital organs is often affected in general illnesses associated with psychiatric disorders, with a highly variable clinical presentation. Management depends on the clinical presentation and stabilization of the psychiatric disorder, which implies a multidisciplinary approach.

AI-powered visual diagnosis of vulvar lichen sclerosus: A pilot study.

Vulvar lichen sclerosus (VLS) is a chronic inflammatory skin condition associated with significant impairment of quality of life and potential risk of malignant transformation. However, diagnosis of VLS is often delayed due to its variable clinical presentation and shame-related late consultation. Machine learning (ML)-trained image recognition software could potentially facilitate early diagnosis of VLS. To develop a ML-trained image-based model for the detection of VLS. Images of both VLS and non-VLS anogenital skin were collected, anonymized, and selected. In the VLS images, 10 typical skin signs (whitening, hyperkeratosis, purpura/ecchymosis, erosion/ulcers/excoriation, erythema, labial fusion, narrowing of the introitus, labia minora resorption, posterior commissure (fourchette) band formation and atrophic shiny skin) were manually labelled. A deep convolutional neural network was built using the training set as input data and then evaluated using the test set, where the developed algorithm was run three times and the results were then averaged. A total of 684 VLS images and 403 non-VLS images (70% healthy vulva and 30% with other vulvar diseases) were included after the selection process. A deep learning algorithm was developed by training on 775 images (469 VLS and 306 non-VLS) and testing on 312 images (215 VLS and 97 non-VLS). This algorithm performed accurately in discriminating between VLS and non-VLS cases (including healthy individuals and non-VLS dermatoses), with mean values of 0.94, 0.99 and 0.95 for recall, precision and accuracy, respectively. This pilot project demonstrated that our image-based deep learning model can effectivelydiscriminate between VLS and non-VLS skin, representing a promising tool for future use by clinicians and possibly patients. However, prospective studies are needed to validate the applicability and accuracy of our model in a real-world setting.

Childhood brainstem lesions

Brainstem gliomas are more common in the paediatric age group as compared to adults. They have variable clinical presentations, which can range from mild to severe. Radiographic appearance on MRI, anatomical location, and molecular pathology plays a key role in management and prognostication. A multidisciplinary approach based upon the extent and type of tumour is followed. In our study, we have reported 3 such cases who presented in different ways and were diagnosed as brainstem glioma. We have also discussed various modalities of investigation and management.

Intermediate cystinosis: a case report of 10-year treatment with cysteamine

BackgroundCystinosis is a lysosomal storage disorder characterized by an autosomal recessive phenotype. Intermediate cystinosis, which progresses slowly and causes renal failure, accounts for approximately 5% of all cystinosis cases. Patients with intermediate cystinosis may not exhibit the typical symptoms of cystinosis, such as Fanconi syndrome and ocular symptoms. Because of its diverse clinical presentation and rarity, intermediate cystinosis can be difficult to diagnose. Additionally, few patients can tolerate cystine-depleting drugs, such as cysteamine, because of their complicated administration schedules and side effects. We report a case of intermediate cystinosis that was treated with cysteamine for 10 years.Case presentationUrinary abnormalities were first diagnosed when the patient was 3 years of age during a health examination specifically for 3-year-old children, which is unique to Japan. Cystinosis was diagnosed when the patient was 12 years of age. Cysteamine therapy was initiated and regular cystine concentration measurements were performed. Although proteinuria persisted, the patient’s renal function progressed slowly. Two renal biopsies were performed, and multinucleated podocytes and cystine crystals without focal segmental glomerulosclerosis lesions were observed in the biopsy specimens. The patient’s renal function remained stable.ConclusionsThis case of intermediate cystinosis was treated with cysteamine over the course of 10 years. Intermediate cystinosis requires an appropriate diagnosis and long-term treatment.

Multi-omics profiling reveals peripheral blood biomarkers of multiple sclerosis: implications for diagnosis and stratification.

Multiple sclerosis (MS), a chronic autoimmune disorder marked by demyelination in the central nervous system, is exceptionally uncommon in China, and remains poorly understood in terms of its peripheral blood manifestations. We conducted a cohort study comprising 39 MS patients and 40 normal controls (NC). High-dimensional mass cytometry, protein arrays, and targeted metabolomics were utilized to profile immune subsets, proteins, and metabolites in blood. Differences in multi-omics signatures were scrutinized across varying MS subtypes. Immune profiling demonstrated an elevation in various B cell subsets and monocytes, alongside a reduction in dendritic cells among MS patients. Proteomic data revealed a downregulation in neurotrophic and tissue repair proteins. Metabolomic assessment showed a noted decrease in anti-inflammatory molecules and sphingolipids. Integrated analysis identified distinct molecular patterns distinguishing MS from controls. Additionally, multi-omics differences among different MS subtypes were uncovered. Notably, hippuric acid levels was consistently lower in MS subgroups with greater disease severity. This study represents the pioneering exploration of multi-omics in Chinese MS patients, presenting a comprehensive view of the peripheral blood changes in MS. Our study underscores the robust capability of multi-omics assessments in identifying peripheral blood biomarkers that delineate the varied clinical presentation, and facilitates future development of biomarkers and targeted therapeutic interventions in MS.

Current trends in the management of hypospadias: the Ibero-American experience

Introduction: Hypospadias management has seen various trends over the years, likely due to the diverse clinical presentations and evolving surgical techniques. However, there is a lack of consensus among pediatric urologists on many aspects of hypospadias management. To address this, our research aims to survey specialists and establish a consensus on hypospadias management. Methodology: In July 2021, a cross-sectional study was conducted using a Survey Monkey questionnaire consisting of 23 questions. The survey aimed to gather information about the generalities and management preferences of distal and proximal hypospadias from specialists belonging to the Ibero-American Society of Pediatric Urology (SIUP). The data collected was categorized into subgroups based on surgical techniques, perioperative preferences, and complications. Results: Most hypospadias surgeries are performed between 13-18 months. Penile curvature is evaluated with artificial erection and visual inspection. The Nesbit technique (36.1%) and ventral corportomies (26.9%) corrections are more common, while grafts corporoplasties are used less frequently (10.2%) for correction. For urethroplasty, the surveyed group prefers using a running suture or a combination of continuous and interrupted stitches (49.1% and 24.3%, respectively). The use of Polydioxanone 6-0 in a double-layer suture group yielded a higher response rate. The use of prophylactic antibiotics and their maintenance when the catheter is in place was also favored by most surgeons. Discussion: When repairing hypospadias, the surgeon must consider factors such as the quality of the urethral plate, the presence of penile curvature, and the location of the urethral opening. This study highlights the different strategies and technical preferences used for hypospadias repair by a group of specialists from different countries. Conclusion: The survey describes current trends in hypospadias management. Two-stage repair is commonly used for proximal hypospadias, while TIP repair is the most used technique for distal hypospadias. The most common complication is the development of an urethrocutaneous fistula.

Comparison of polymeric clip and endoloop in laparoscopic appendectomy: A systematic review and meta-analysis

BackgroundAppendicitis is a common surgical emergency with diverse clinical presentations, making its diagnosis challenging. Laparoscopic appendectomy has become the standard treatment, with various methods for appendiceal stump closure, including polymeric clips and endoloops. This study aims to compare the efficacy and safety of polymeric clips compared with endoloops in laparoscopic appendectomy. MethodsA systematic review and meta-analysis were conducted followingPreferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. PubMed, Medline, Scopus, and Embase were searched for studies up to March 25, 2024. ResultsIn total, 13 studies, including 6 randomized controlled trials, were analyzed. Polymeric clipping demonstrated significantly shorter surgical time compared with the endoloop (standardized mean difference 0.37, 95% confidence interval 0.22–0.53, P < .00001), with no difference in hospital stay or overall complications. However, the endoloop was associated with a greater incidence of intra-abdominal abscess (risk ratio 3.53, 95% confidence interval 1.56–8.00, P = .003). Other outcomes, including time from instrument application to appendiceal cutting, ileus, and surgical-site infection, showed no significant differences between the 2 techniques. ConclusionPolymeric clipping appears to be superior to endoloop in terms of shorter surgical time and lower risk of intra-abdominal abscess formation in laparoscopic appendectomy for uncomplicated appendicitis. However, both techniques have similar outcomes regarding hospital stay and overall complications. Further research addressing study limitations and exploring patient-centered outcomes is warranted to guide clinical practice.

An Inflammatory Myofibroblastic Tumour Presenting with Limited Mouth-Opening, Hypoesthaesia of The Left Chin and Infraorbital Area, Intermittent Left Eye Ptosis and Converging Strabismus.

An inflammatory myofibroblastic tumour (IMT) is a challenging disease.Given the variable clinical and radiological presentation of the disease, it is of paramount importance to know it, to be swiftly recognised so diagnosis can be promptly made.The adapted treatment should be immediately started to prevent possible life-threatening outcomes.

Comparative analysis of pediatric pulmonary and extrapulmonary tuberculosis: A single-center retrospective cohort study in Syria

BackgroundTuberculosis (TB) is a global public health challenge, contributing significantly to morbidity and mortality worldwide. This research aims to investigate the epidemiology, clinical characteristics, diagnostic methods, and early mortality rate among pediatric patients with pulmonary tuberculosis (PTB) and extrapulmonary tuberculosis (EPTB) who were admitted to a hospital in Syria. MethodsThis retrospective cohort study was conducted at the University Children's Hospital in Syria, involving pediatric patients diagnosed with TB between January 2013 and January 2023. Data were collected from medical records and encompassed socio-demographic characteristics, diagnostic methods, clinical presentation, chest radiography findings, and patient outcomes. Statistical analysis was performed using SPSS version 25. ResultsA total of 129 patients were included in the study, with 26.4 % diagnosed with PTB and 73.6 % with EPTB. The most common types of EPTB were lymphatic (25.6 %) and gastrointestinal (17.1 %). Patients with PTB and EPTB did not differ significantly in terms of age, weight, or gender. Significant cough was more common in PTB cases (67.6 %), while lymphadenopathy was more prevalent in EPTB cases (48.4 %). Chest X-ray abnormalities were found in 58.1 % of patients, with PTB patients more likely to have abnormal findings (97.1 %). Microbiological confirmation was higher in PTB cases (76.5 %) compared to EPTB cases (25.3 %). The overall mortality rate was 14 %, with higher mortality observed in patients with EPTB (16.8 %), particularly in cases of TB meningitis. ConclusionOur study highlights the epidemiological challenges of TB among hospitalized children, with a focus on the complexities of diagnosing and managing EPTB. We emphasize the urgent need for enhanced diagnostic and management strategies, particularly in conflict zones like Syria, where TB control efforts face significant obstacles. Prompt solutions are imperative to improve outcomes, given the high occurrence of EPTB and its associated mortality rates. Clinical recommendations stress the need for comprehensive contact histories and awareness of varied clinical presentations in pediatric TB diagnosis.

Multi-locus sequence typing and genetic diversity of antibiotic-resistant genes and virulence-associated genes in Burkholderia pseudomallei: Insights from whole genome sequencing of animal and environmental isolates in Thailand

Burkholderia pseudomallei is a Gram-negative bacillus and the etiological agent of melioidosis in humans and animals. The disease is highly endemic in northern Australia and Southeast Asia. Comprehensive genomic data are essential for understanding the bacteria's dissemination and genetic relationships among strains from different geographical regions. In this study, we conducted antimicrobial susceptibility testing and whole-genome sequencing of 54 B. pseudomallei isolates obtained from environmental and animal sources in southern Thailand between 2011 and 2018. Their genomics were determined of antibiotic-resistant genes (ARGs), virulence-associated genes, mobile genetic elements (MGEs), sequence types (STs), and single nucleotide polymorphisms (SNPs) to evaluate their epidemiological relatedness. Remarkably, all 54 isolates displayed sensitivity to antimicrobial agents typically used for melioidosis treatment. We identified nine distinct sequence types: ST392, ST51, ST409, ST508, ST376, ST1721, ST389, ST395, and ST289. Oxacillinase genes and the resistance nodulation family of efflux pumps (RND) were identified as contributors to antimicrobial resistance. Phylogenetic analysis demonstrated close genetic relations with other strains isolated from Southeast Asia. Furthermore, 172 virulence-associated genes were identified among the isolates, suggesting variations in clinical presentations. These findings underscore the importance of ongoing molecular genetic surveillance of B. pseudomallei for effective healthcare management and reducing melioidosis mortality.

Primary Cauda Equina Lymphoma Mimicking Meningioma

Background: Spinal cord lymphomas represent a minority of extranodal lymphomas and often pose diagnostic challenges by imitating primary spinal tumors or inflammatory/infective lesions. This paper presents a unique case of primary cauda equina lymphoma (PCEL) and conducts a comprehensive review to delineate the clinical and radiological characteristics of this rare entity. Case Report: A 74-year-old male presented with progressive paresthesia, motor weakness, and symptoms indicative of cauda equina syndrome. Neurological examination revealed paraparesis and sphincter dysfunction. Imaging studies initially suggested an intradural meningioma. However, surgical intervention revealed a diffuse large B-cell lymphoma infiltrating the cauda equina. Findings: A systematic review of the pertinent literature identified 18 primary cauda equina lymphoma cases. These cases exhibited diverse clinical presentations, treatments, and outcomes. The mean age at diagnosis was 61.25 years for women and 50 years for men, with an average follow-up of 16.2 months. Notably, 35% of patients were alive at 18 months, highlighting the challenging prognosis associated with PCEL. Discussion: Primary spinal cord lymphomas, especially within the cauda equina, remain rare and diagnostically complex due to their nonspecific clinical manifestations. The review highlights the need to consider spinal cord lymphoma in patients with neurological symptoms, even without a history of systemic lymphoma. Diagnostic Approaches: Magnetic resonance imaging (MRI) serves as the primary diagnostic tool but lacks specificity. Histopathological examination remains the gold standard for definitive diagnosis. The review underscores the importance of timely biopsy in suspected cases to facilitate accurate diagnosis and appropriate management. Management and Prognosis: Current management involves biopsy and chemotherapy; however, optimal treatment strategies remain ambiguous due to the rarity of PCEL. Despite aggressive therapeutic interventions, prognosis remains poor, emphasizing the urgency for enhanced diagnostic and treatment modalities. Conclusions: Primary cauda equina lymphoma poses diagnostic and therapeutic challenges, necessitating a high index of suspicion in patients with atypical spinal cord symptoms. Collaborative efforts between neurosurgical, oncological, and infectious diseases teams are imperative for timely diagnosis and management. Advancements in diagnostic precision and therapeutic options are crucial for improving patient outcomes.