Diagnostic Challenge Research Articles

Managing crawling-type gastric adenocarcinoma with endoscopic techniques and postoperative monitoring

Crawling-type gastric adenocarcinoma is a rare subtype of gastric cancer with diagnostic and therapeutic challenges due to its flat, ill-defined lesions. Advanced diagnostic techniques, such as narrow-band imaging and linear endoscopic ultrasonography, improve detection, but endoscopic submucosal dissection poses a risk of incomplete resection. Despite negative resection margins, vigilant postoperative monitoring is crucial due to the potential for recurrence. This letter highlights the importance of refined diagnostic criteria, individualized treatment approaches, and continuous follow-up to optimize management of this unique gastric cancer subtype.

Diagnostic Challenges in Hematological Malignancies in Nigeria and their Impact on Treatment Outcome

Haematological magnificence constitutes a major public health disease burden globally due to the degree of mortality and morbidity they cause. Aim: This review was aimed at exploring and reporting some of the difficulties that hinder early/accurate diagnosis and management of haematological malignancies in Nigeria emphasizing a single centre experience and to further highlight how they affect treatment outcome. Methodology: Google scholar, Pubmed and African Journals online sites were explored in July 2024. Relevant articles were selected. The most senior consultant haematologist in the single centre in South South Nigeria being studied was interviewed and account was documented. Results: The difficulties encountered in the prompt/proper diagnosis and management of haematological malignancies reported by the studies and the clinician interviewed include, visiting orthopaedic and other specialists as well as herbalists and spiritualists for several months before reporting to the haematology clinic, mis – and/or missed diagnosis due to inadequate diagnostic equipment and techniques like use of morphological studies alone for Rowmanawsky stained blood picture examination and histological diagnosis without cytogenetics, immunophenotyping, polymerase chain reaction fluorescent insitu hybridization, poverty, cultural and religious beliefs. Poor treatment outcome as a result of these challenges were also reported. Conclusion: Enlightenment campaigns on the benefits of early diagnosis and prompt presentation to the hospital should be encouraged. Provision of up-to-date advanced technologies for early/accurate diagnosis and sub classification of haematologiacl malignancies should be made in main health facilities across the country. Diagnosis and treatment of haematological malignancies should be built into the National Health Insurance scheme to strengthen the system in this regard.

Clinical Presentation, Investigation Findings, and Outcomes of IgG4-Related Pachymeningitis

ImportanceImmunoglobulin G4 (IgG4)–related disease is an increasingly recognized fibroinflammatory condition that can involve multiple organs, including the pachymeninges. The understanding of IgG4-related pachymeningitis (IgG4-RP) remains limited because of its rarity and the predominance of knowledge derived from case reports and case series.ObjectiveTo systematically review and synthesize the clinical presentation, investigation findings, and prognosis of IgG4-RP to better understand its diagnosis and management.Evidence ReviewA comprehensive systematic review was conducted following guidelines from the Preferred Reporting Items for Systematic Reviews and Meta-analyses. PubMed/MEDLINE, Embase, and Scopus were searched from their inception until May 30, 2023, using terms related to IgG4-related disease and pachymeningitis without language or publication restrictions. Case reports and series that met the 2020 Revised Comprehensive Diagnostic Criteria or the 2019 American College of Rheumatology/European League Against Rheumatism classification criteria were included. Data on clinical presentations, investigation findings, and treatment outcomes were extracted and summarized.FindingsA total of 148 case reports contributed data from 208 patients. Their median (IQR) age was 52 (39-62) years; 132 patients were male (63.5%) and 76 female (36.5%). Headache and cranial nerve dysfunctions were the most common neurological manifestations. Systemic involvement was identified in nearly half of the patients. Diagnostic imaging often showed preferential involvement of cavernous sinus and middle fossa. Laboratory results highlighted elevated serum IgG4 levels in 97 of 147 patients (65%) of patients and cerebrospinal fluid pleocytosis in 43 of 82 patients (52%). Storiform fibrosis or obliterating phlebitis were uncommon pathological findings. Mortality was below 1% (1/134; 0.7%), but only a third of patients presented complete clinical improvement, and the recurrence rate was 60 patients (40%) in a median (IQR) follow-up time of 9 (1-20) months. Glucocorticoids were the most commonly prescribed treatment, in 143 of 169 patients (85%); rituximab was prescribed as maintenance therapy in 53 of 169 patients (31%).Conclusions and RelevanceIgG4-RP commonly presents with headaches and cranial nerve dysfunction, posing diagnostic challenges due to the significant absence of systemic manifestations, low IgG4 serum levels, and atypical pathological findings. Current treatment outcomes are limited by incomplete recovery and frequent relapses underscoring the necessity for new treatment strategies.

Comprehensive characterization of invasive mammary carcinoma with lobular features: integrating morphology and E-cadherin immunohistochemistry patterns.

Breast cancer treatment prioritizes molecular subtypes over histologic types. However, considering the unique biological behavior of invasive lobular carcinoma (ILC), its diagnosis is crucial for patient management. Therefore, this study aimed to review breast cancer cases, focusing on the E-cadherin patterns and lobular morphology of cases misclassified in the original reports. A comprehensive review was conducted on 481 breast cancer biopsy cases diagnosed as invasive breast carcinoma of no special type (IBC-NST) or ILC with E-cadherin staining. These cases were categorized into six groups based on tumor morphology (ductal/lobular) and E-cadherin expression pattern (membranous/loss/aberrant): (1) ductal/membranous, (2) lobular/loss, (3) lobular/aberrant, (4) mixed, (5) ductal/loss or aberrant, and (6) lobular/membranous. In 211 cases (43.8%), an E-cadherin pattern indicating ILC (loss and aberrant) was observed alongside lobular morphology, representing 5.52% of all breast cancer biopsies during the relevant period. Moreover, 181 cases (37.6%) showed a membranous pattern with ductal morphology, 4 (0.8%) were mixed IBC-NST and ILC, and 85 (17.7%) exhibited discordance between morphology and E-cadherin expression. Notably, only 25.9% (15/58) of cases in group 3, characterized by aberrant E-cadherin patterns, were initially diagnosed as ILC, highlighting a significant diagnostic discrepancy. In group 6, where membranous E-cadherin pattern was present with lobular morphology, only 3.4% (2/58) were diagnosed as ILC in the original reports, indicating diagnostic challenges in morphology and immunohistochemistry discordance. Similarly, in group 5, which had ductal morphology with loss or aberrant E-cadherin expression, the initial diagnosis rate of IBC-NST was 33.3% (9/27), reflecting the complexities in interpreting discordant cases. In real-world practice, diagnosing ILC often heavily depends on E-cadherin results. This study emphasizes the need for diagnostic clarification in cases with discordance between morphology and E-cadherin patterns.

Adrenal Disorders in Pregnancy. A Comprehensive Review and Prospects for Future Research

Introduction and purpose: Adrenal disorders cover a spectrum of conditions, including adrenal insufficiency, Cushing's syndrome and others. Each disorder has its own implications for pregnancy and requires an individualised approach. This review aims to provide a comprehensive overview of adrenal disorders during pregnancy, such as endogenous Cushing's syndrome, adrenal insufficiency, primary aldosteronism, and pheochromocytoma. Brief description of the state of knowledge: During pregnancy, a number of adaptive processes take place in a woman's body including changes in the endocrine system. Given all these changes, adrenal diseases pose both diagnostic and therapeutic challenges. The symptoms of adrenal diseases often overlap with those observed during physiological pregnancy. Adrenal disorders during pregnancy if unrecognised or treated inadequately, can lead to negative consequences for the mother and foetus, indicating the importance of awareness of these conditions among physicians. Conclusions: Treating and diagnosing adrenal diseases during pregnancy is a major challenge for doctors. It is crucial to diagnose adrenal diseases in pregnant women as early as possible, and to meticulously plan pregnancies for women diagnosed before conception to prevent the negative consequences of untreated adrenal disorders. Optimal control of treatment before conception should be sought. Access to specialised centres with multidisciplinary teams experienced in treating these conditions is crucial for optimal maternal and foetal care.

Managing uterine artery pseudoaneurysm post-hysteroscopic surgery: Clinical insights and future directions

This editorial discusses the case report by Kakinuma et al , which details a rare occurrence of uterine artery pseudoaneurysm following hysteroscopic surgery. The case highlights diagnostic challenges and management strategies for this uncommon complication. The editorial explores the implications for clinical practice, emphasizing the importance of early recognition and appropriate intervention to prevent potential severe outcomes. Future research directions to increase the understanding and management of uterine artery pseudoaneurysm in similar clinical settings.

A Case of Acute Necrotizing Encephalitis Misdiagnosed as Opium Poisoning: A Case Report

Introduction: The coronavirus has been associated with significant neurologic complications, including encephalopathy, seizures, ataxia, and motor or sensory deficits. Among these complications, acute necrotizing encephalopathy (ANE) is a rare condition linked to viral infections such as influenza, HHV-6, and COVID-19. This study presents a unique case of ANE in a COVID-19 patient, initially misdiagnosed as opium poisoning. Despite the reduction in pandemic cases, COVID-19 continues to present serious side effects, emphasizing the need to recognize potential neurological manifestations of the virus. Increased awareness and accurate diagnosis are essential for managing these complex cases. Case Presentation: This case study involves a 29-year-old female patient presenting with loss of consciousness and other symptoms that led to a diagnosis of COVID-19-related acute necrotizing encephalitis. Initial suspicions of opium poisoning were ruled out, and imaging tests revealed bilateral ground-glass opacities (GGO) and consolidation in the chest, along with abnormal findings in the brain. The patient was treated with glucocorticoid pulse therapy and IVIG, resulting in symptom improvement, though some neurological deficits persisted at discharge. This case underscores the importance of considering COVID-19 in cases of acute encephalitis and highlights the neurological complications associated with the virus. Conclusions: This study explores ANE as a severe manifestation of COVID-19 infection, focusing on the diverse neurological presentations associated with ANE in COVID-19 patients and a case initially misdiagnosed as opium poisoning. Through a case study of a patient with ANE, characterized by loss of consciousness and meiotic pupils, the research emphasizes the need for early detection and appropriate treatment. Findings suggest that ANE in COVID-19 patients can present with varied symptoms, posing diagnostic challenges. The study underscores the value of timely intervention with glucocorticoid pulse therapy and gamma globulin injection to improve patient outcomes. These findings highlight the necessity for increased awareness among healthcare providers to promptly recognize ANE in COVID-19 patients, aiding in timely and effective intervention.

Breast Implant-Associated Anaplastic Large Cell Lymphoma: A Case Report About a Patient with Cytology Negative for Malignancy

Breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) is a rare lymphoma primarily linked to textured breast implants. Symptoms are often non-specific (e.g., breast swelling, pain, or fluid collection). When imaging detects fluid around the implant, cytological examination is the first diagnostic approach. However, this method has limited sensitivity and may yield false-negative results. In this case, a 41-year-old woman presented with swelling, pain, and itching in her left breast six years after bilateral textured breast implant placement. Ultrasonography (US) revealed peri-implant fluid collection around the left implant. A following magnetic resonance imaging (MRI) scan ruled out an implant rupture. Due to persistent pain and the peri-implant effusion on the left side, open surgery was performed. During implant removal, the seroma was drained, and multiple suspicious masses were found on the left side. The cytology of the seroma fluid was negative and intraoperative frozen sections of the excised masses were inconclusive. A complete capsulectomy was conducted due to the suspicion of malignancy. Histological examination ultimately confirmed the diagnosis of BIA-ALCL. This case highlights the diagnostic challenges associated with this rare condition. Therefore, BIA-ALCL should always be considered in the differential diagnosis of breast implant-associated seroma.

Diagnostic and Therapeutic Challenges of Focal Cortical Dysplasia in Mali: A Case Report

Focal Cortical Dysplasias (FCDs) are a common cause of pharmaco-resistant epilepsy. FCDs are rare conditions, and their pathogenesis remains poorly understood. We report a 12-year-old patient seen in our clinic for focal onset epileptic seizures. Neurological examination and brain CT-scan were nearly normal. However, an electroencephalogram (EEG) revealed a slightly slow background rhythm with slow spikes in the medial and right parietal regions and a brain magnetic resonance imaging (MRI) showed a focal cortical thickening in the right parietal lobe with FLAIR hypersignal, indicating a focal cortical dysplasia. Ongoing seizures marked the disease course under antiepileptic polytherapy after 15 months of treatment. Keywords: Focal cortical dysplasia, pharmaco-resistant epilepsy, Mali, Africa.

Paradoxical deterioration during treatment of tuberculous meningitis responded to infliximab but not to steroids

Paradoxical deterioration in patients with tuberculous meningitis is a significant diagnostic and treatment challenge. We present the case of a 55-year-old previously healthy male, human immunodeficiency virus (HIV)-negative, presenting with headache, fever, agitation and slurred speech, who was ultimately diagnosed with tuberculous meningoencephalitis confirmed by cerebrospinal fluid polymerase chain reaction positive for Mycobacterium tuberculosis complex. After initiation of a standard antitubercular therapy combined with glucocorticoids, the patient experienced an initial neurological improvement. However, after 3 months of therapy, he had a major stroke with neurological deterioration, clinically and radiologically attributable to a paradoxical deterioration or an immune reconstruction syndrome as described in HIV-positive patients. Due to the persistence of inflammatory symptoms and radiological evidence of worsening tuberculomas despite ongoing antituberculosis therapy, off-label use of the tumour necrosis factor (TNF) inhibitor infliximab was initiated. The patient received three doses of infliximab at 5 mg/kg at monthly intervals, which led to marked clinical and radiological improvement. Follow-up magnetic resonance imaging showed regression of lesions, and the patient was eventually discharged with a significant recovery of motor and speech functions. This case underscores the potential of TNF inhibitors in managing severe cases of paradoxical deterioration in patients with tuberculous meningitis, challenging existing treatment paradigms and suggesting a need for further research into the pathophysiology and treatment of this condition.

Clinical features of midzonal iris pigment epithelial cysts: surprising findings revealed by ultrasound biomicroscopy.

Midzonal iris pigment epithelial (IPE) cysts are typically asymptomatic but can pose a differential diagnostic challenge by mimicking ciliary body melanoma. We conducted a case series study of the clinical characteristics of these iris cysts, particularly their shapes and sizes and associated lesions revealed by ultrasound biomicroscopy (UBM). Charts of patients with midzonal IPE cysts encountered by one or more of the authors were reviewed retrospectively. Pertinent demographic information and clinical data about these patients and their cysts were abstracted. 69 patients were identified. At initial diagnosis, patients ranged in age from 14.8 to 89.5years (median: 66.0years). Only one patient was < 30years old at diagnosis. 38 patients (55.1%) were female. 74 eyes (39 right, 35 left) contained one or more clinically identified midzonal IPE cysts. The cysts involved the right eye alone in 34 (49.3%), the left eye alone in 30 (43.5%), and both eyes in 5 (7.2%) patients. The midzonal IPE cysts were located most often inferotemporally (51.4%) and second most often temporally (23.0%). UBM imaging had been performed on 44 of the 74 affected eyes. The median largest basal diameter of the midzonal IPE cysts evaluated by UBM was 4.5mm (extremes: 1.5 to 13mm), and the median height of these cysts was 1.5mm (extremes: 0.6 to 6mm). The largest lesion was a complete ring cyst. All 3 UBM-evaluated eyes that appeared by slit lamp biomicroscopy to have two or more distinct midzonal IPE cysts were shown by UBM to have a single sausage or kidney-bean shaped partial ring cyst with radial folds between the lobules and not separate multiple cysts. UBM imaging also identified peripheral IPE cysts in 32 of 44 evaluated eyes (72.7%). Our case series confirmed previously reported findings regarding age at diagnosis and most common locations of midzonal IPE cysts. However, our UBM images revealed that at least some IPE cysts identified by slit lamp biomicroscopy as multifocal are partial ring cysts with radial folds in the cyst wall between lobules and not true independent multiple cysts. What is known Midzonal IPE cysts occur most often unilaterally and inferotemporally. Midzonal IPE cysts are frequently associated with peripheral IPE cysts. What is new UBM imaging of eyes with two-clinically detected IPE cysts showed that they were confluent as opposed to separate cysts. The median largest basal diameter of midzonal IPE cysts evaluated by UBM was 4.5 mm (extremes: 1.5 and 13 mm). The median height of midzonal IPE cysts evaluated by UBM was 1.5 mm (extremes: 0.6 and 6 mm).

Paediatric Hand Fractures - A Review.

Paediatric hand fractures account for approximately 25% of hand-related emergency department visits, making them the second most common childhood fractures after distal forearm fractures. These injuries are more prevalent in boys and peak ages between 9 and 14 years. Hand fractures in children are primarily caused by crushing injuries and, increasingly in older children, by sports-related activities. The little finger (52%) and thumb (23%) are the most frequently fractured digits, with phalangeal fractures, especially of the proximal phalanx, being common. Metacarpal fractures are more prevalent in adolescents (13-16 years) compared to younger children. Accurate diagnosis in the paediatric population is complicated by difficult clinical examinations and the presence of growth plates, leading to an 8% misdiagnosis rate, mainly due to misinterpretation of the ossification centres and physes. High-quality radiographic evaluation combined with a thorough clinical assessment is critical for correct diagnosis and appropriate management. The robust periosteum and high remodelling potential of paediatric bones allow most hand fractures to be managed non-operatively with splinting or casting. However, fractures with significant angulation, rotation, intra-articular involvement or open wounds may require surgical intervention, such as closed or open reduction and internal fixation with Kirschner wires. Most paediatric hand fractures heal well with excellent functional outcomes due to the high remodelling capacity of paediatric bones. Early mobilisation and appropriate immobilisation are key to preventing stiffness. Despite the generally favourable prognosis, certain fractures remain challenging to diagnose and treat, highlighting the need for specialised care. The aim of this review article is to discuss the epidemiology, fracture patterns, diagnostic challenges and management strategies essential for optimising functional outcomes and minimising long-term complications in treating paediatric hand fractures. Level of Evidence: Level V (Therapeutic).

SURGICAL RESECTION OF A COMPLEX TUBERCULUM SELLAE MENINGIOMA ENCASING MAJOR ARTERIES

Introduction Though constituting only a minor proportion (1%) of sellar masses, suprasellar meningiomas pose a significant diagnostic challenge within the region of sellar and suprasellar tumors. Pituitary adenomas, at nearly 90% prevalence, dominate this anatomical region. Distinguishing these two entities is paramount, as both clinical presentation and, to some extent, biochemical profiles exhibit notable overlap. Accurate preoperative differentiation is critical due to the contrasting behaviors of these tumors. Meningiomas, with their robust vascularity supplied by dural and osseous arteries, present a heightened risk of intraoperative hemorrhage. Clinical Case A 53-year-old woman presented with a two-month history of worsening headaches and gradual vision loss. Neurological examination revealed only visual acuity decline. Her hormone profile showed elevated prolactin but lacked clinical features of prolactin excess, suggesting a possible prolactin-secreting pituitary macroadenoma. A contrast-enhanced MRI confirmed a significant sellar and suprasellar mass with homogeneous enhancement, extending to the right paramedian region and encasing the right internal carotid artery (ICA) at its critical segment involving the cavernous and supraclinoid portions. Furthermore, the right middle meningeal artery (M1) and anterior cerebral artery (A1) originated from this same location, highlighting the high surgical risk. Surgical resection was deemed necessary. The patient underwent a right pterional craniotomy, revealing a grayish, extradural soft mass lesion encasing the ICA bifurcation. Careful microsurgical dissection with basal devascularization was performed, followed by near-complete tumor removal using an ultrasonic aspirator to minimize damage to the encased arteries. Postoperative follow-up CT scan confirmed successful near-total tumor ablation. Conclusion This case underscores the critical role of meticulous preoperative diagnosis in managing complex sellar tumors. While pituitary adenomas dominate this region, suprasellar meningiomas, despite their rarity, demand a high index of suspicion. Overlapping clinical and biochemical presentations highlight the reliance on advanced imaging for accurate differentiation. The intricate vascularity of meningiomas, as exemplified by the encasement of critical arteries in this case, necessitates meticulous surgical technique with devascularization strategies. This successful near-complete tumor removal emphasizes the importance of such surgical expertise in navigating these diagnostically challenging sellar lesions.

UNVEILING THE VEIN

Cerebrospinal fluid (CSF)-venous fistula represents a formidable yet often overlooked neurosurgical dilemma. Despite its disabling consequences, it remains significantly underdiagnosed. This abstract sheds light on the clinical intricacies, diagnostic challenges, and therapeutic interventions associated with CSF-venous fistula. Early diagnosis is paramount, yet hindered by its rarity and diverse and often unspecific clinical presentations. The importance of heightened awareness among clinicians and radiologists for timely detection and management cannot be overstated. This presentation will draw upon a review of clinical cases operated in the Royal Hallamshire Hospital, supplemented by a concise surgical video which is focused on surgical technique and benefit of microscope mediated augmented reality.

The Unique Challenge of Coronary Artery Disease in Adult Patients with Congenital Heart Disease

Advances in medical and surgical interventions have resulted in a steady increase in the number of patients with congenital heart disease (CHD) reaching adult age. Unfortunately, this ever-growing population faces an added challenge: an increased risk of acquiring coronary artery disease. This review provides insight into the complex interactions between coronary artery disease and CHD in adults. We describe the peculiar features of cardiac anatomy in these patients, the possible role cardiac sequelae may play in an increased risk of myocardial ischemia, and the diagnostic challenges in this patient group. Furthermore, this review outlines the risk factors and potential mechanisms of accelerated atherosclerosis in adults with CHD by pointing out areas where current knowledge is incomplete and highlighting areas for further research. The review concludes by examining potential management strategies for this particular population, emphasizing the necessity for a multidisciplinary approach. Understanding the unique coronary risks that adults with CHD experience can enhance patient care and improve long-term results.

Innovative diagnostic technologies: navigating regulatory frameworks through advances, challenges, and future prospects.

Diagnostic tools are key to guiding patient management and informing public health policies to control infectious diseases. However, many diseases still do not have effective diagnostics and much of the global population faces restricted access to reliable, affordable testing. This limitation underscores the urgent need for innovation to enhance diagnostic availability and effectiveness. Developing diagnostics presents distinct challenges, especially for innovators and regulators. Unlike medicines, regulatory pathways for diagnostics are often less defined and more complex due to their diverse risk profiles and wide range of products. These challenges are amplified in low-income and middle-income countries, which often do not have regulatory frameworks for this specific purpose. In the UK, initiatives aim to support innovation by providing clearer regulatory pathways and ensuring that diagnostics are safe and effective. Regulators are also collaborating internationally to expedite diagnostics for high-need regions. Harmonised standards, regulatory frameworks, and approval processes are essential to ensure consistent quality and safety across regions and facilitate faster development and global access. This Series paper explores the regulatory challenges in infectious disease and antimicrobial resistance diagnostics, focusing on the UK's response and the broader global efforts to address these issues.

Impact of empirical treatment in patients with extrapulmonary tuberculosis and their outcome

Abstract Background Tuberculosis (TB), primarily caused by mycobacterium tuberculosis (Mtb), remains a significant public health concern globally, particularly in low-resource settings. Extrapulmonary tuberculosis (EPTB), which affects organs beyond the lungs, presents diagnostic and treatment challenges, necessitating improved clinical management strategies. This work was aimed to assess the impact of empirical anti-TB treatment on the outcomes of patients with extrapulmonary tuberculosis and to analyze the demographic and risk factors associated with EPTB. Methods A retrospective cohort study was conducted over three years (2020–2023) at PSG Hospitals, Coimbatore. Ninety-two subjects, all with negative microbiological results but symptoms indicative of EPTB, were carefully selected. Results A total of 92 patients were included in the study, all of whom had negative microbiological diagnosis with symptoms suggestive of EPTB. The mean age of patients was 58.14 years, with a male predominance (59.78%). Pleural effusion was the most common EPTB site, with many patients having no co-morbidities. Occupational factors, such as cotton millwork, and lifestyle factors, including alcohol use and malnutrition, were prominent risk factors. Clinical manifestations varied, with fever being the most common symptom. Treatment completion was 65.22%, falling below National Tuberculosis Elimination Program (NTEP) guidelines, with notable loss to follow-up and mortality rates. Conclusion Empirical treatment for EPTB showed notable improvement in the patient's symptoms and overall health. However, challenges persist in treatment completion, especially among socioeconomically disadvantaged populations. Early detection, prompt treatment initiation, and comprehensive management are essential to address the multifaceted challenges posed by EPTB effectively.

DEALING WITH TWO SYNCHRONOUS LESIONS

Introduction Multiple synchronous intracranial lesions present a significant diagnostic and therapeutic challenge, in most cases appearing as metastatic tumors or same-cell type tumors. Case Report We report the case of a 73-year-old patient admitted in our department with light left hemiparesis (MRC MMT 4/5), light left hypoesthesia and transitory and remitted state of temporo-spatial confusion that debuted around six weeks prior to presentation. The neurological exam confirmed the sensorimotor deficit and displayed the existence of left neglect syndrome. The patient’s MRI revealed a giant temporo-parieto-occipital mass almost 7 cm in diameter that appeared to have an intraventricular starting point and showed a relatively homogeneous contrast enhancement with significant mass effect. A concomitant superficial parieto-temporal lesion was also noted. Both lesions were excised in a successive manner from superficial to deep, using a right parieto-temporal craniotomy. While the giant mass had a yellowish color and an extremely hard consistency, the superficial one was easily suctionable and had a grey-reddish color and was extremely well vascularized, raising the suspicion of concomitant brain lesions of different histology. Postoperatively the patient underwent a routine thoracic CT scan in the context of a position related soft tissue injury that revealed the existence of two pulmonary lesions, further deepening our suspicion of concomitant brain lesions of different histology. Conclusions Although extremely rare, the appearance of two histologically distinct brain lesions in patients with no evidence of a genetic condition should be taken into consideration especially in the context of intraoperative differences in order to successfully guide the patients’ follow-up treatment.

Ultrasonographic characteristics of neonatal appendicitis: a case series.

Neonatal appendicitis is a rare but critical condition that presents diagnostic challenges due to its nonspecific symptoms and clinical manifestations. Early and accurate diagnosis is crucial for reducing the high mortality rates associated with this condition. Abdominal ultrasonography plays a pivotal role in identifying characteristic signs of appendicitis in neonates. This study aimed to investigate whether neonatal appendicitis can be diagnosed with abdominal ultrasonography by identifying its specific signs. This study reviewed 20 consecutive cases of neonatal appendicitis confirmed through surgery at a National Medical Center. Preoperative abdominal ultrasonography was analyzed for direct and indirect signs of appendicitis. Our study included neonates with a mean age of 13.0 ± 7.1 days. The appendix was identifiable in 13 out of 20 cases (65%). The mean outer diameter of the appendix was 4.6 ± 1.8mm. Eight cases had appendix diameter ≥ 4mm. Fluid accumulation within the appendiceal cavity was noted in 6 (30%) patients, and peri-appendiceal fluid accumulation was detected in 5 (25%) patients. Ultrasonography revealed appendiceal perforation in 12 out of 16 cases (75%). The indirect signs of neonatal appendicitis included right lower quadrant (RLQ) abscess, pneumoperitoneum, and thickening of the intestinal wall and mesentery in the RLQ. Most cases of neonatal appendicitis may be diagnosed through abdominal ultrasonography by identifying both direct and indirect signs. Future studies with larger patient cohorts are needed to improve ultrasonographic diagnosis of neonatal appendicitis.

Macrophage Activation Syndrome in MIS-C.

Multisystem inflammatory syndrome (MIS-C) represents a diagnostic challenge because of its overlap with Kawasaki disease, Kawasaki disease shock syndrome, and toxic shock syndrome. Macrophage activation syndrome (MAS) is a frequently fatal complication of various pediatric inflammatory disorders and has been reported in MIS-C. Early diagnosis and prompt initiation by immune modulating therapies are essential for effectively managing MAS. We conducted a retrospective study to determine the frequency, natural history, diagnostic metrics, treatment, and outcome of MAS in MIS-C within a large cohort of patients across 84 Latin American centers in 16 countries. We compared the clinical and laboratory characteristics between patients with and without MAS. Among 1238 patients with MIS-C, 212 (17.1%) fulfilled MAS criteria. Gastrointestinal and neurologic manifestations were more frequent in cases where MIS-C was complicated by MAS. Patients presenting with MIS-C complicated by MAS had a mortality rate of 12%, which was higher than those without it. Mortality was associated with MAS, seizures, arthritis, and shock. A ferritin or erythrocyte sedimentation rate ratio of >18.7 exhibited a sensitivity of 88.2% and a specificity of 75% in diagnosing MAS in MIS-C. MAS in MIS-C patients is associated with increased morbidity and mortality rates in the largest MIS-C Latin American cohort. Early recognition and appropriate management are crucial in improving patient outcomes and reducing mortality rates.