Variable Clinical Presentation Research Articles

Expanding Clinical Spectrum of Anti-GQ1b Antibody Syndrome: A Review.

The discovery of the anti-GQ1b antibody has expanded the nosology of classic Miller Fisher syndrome to include Bickerstaff brainstem encephalitis, Guillain-Barré syndrome with ophthalmoplegia, and acute ophthalmoplegia without ataxia, which have been brought under the umbrella term anti-GQ1b antibody syndrome. It seems timely to define the phenotypes of anti-GQ1b antibody syndrome for the proper diagnosis of this syndrome with diverse clinical presentations. This review summarizes these syndromes and introduces recently identified subtypes. Although ophthalmoplegia is a hallmark of anti-GQ1b antibody syndrome, recent studies have identified this antibody in patients with acute vestibular syndrome, optic neuropathy with disc swelling, and acute sensory ataxic neuropathy of atypical presentation. Ophthalmoplegia associated with anti-GQ1b antibody positivity is complete in more than half of the patients but may be monocular or comitant. The prognosis is mostly favorable; however, approximately 14% of patients experience relapse. Anti-GQ1b antibody syndrome may present diverse neurological manifestations, including ophthalmoplegia, ataxia, areflexia, central or peripheral vestibulopathy, and optic neuropathy. Understanding the wide clinical spectrum may aid in the differentiation and management of immune-mediated neuropathies with multiple presentations.

Variable Clinical Presentations and Renal Outcome in Neonates With Autosomal Recessive Polycystic Kidney Disease

Variable Clinical Presentations and Renal Outcome in Neonates With Autosomal Recessive Polycystic Kidney Disease

Lupus Journey: The Challenge of Obstructıve Hydrocephalus

Systemic lupus erythematosus (SLE) is a complex autoimmune condition known for its diverse clinical presentations. Neuropsychiatric SLE refers to neurological or psychiatric symptoms that arise once other potential causes have been ruled out. While hydrocephalus occurring in the context of SLE is exceedingly rare and its underlying mechanism remains elusive, its recognition is crucial for informed management decisions. A 20-year-old female patient, diagnosed with SLE, had been under our rheumatology clinic's care for two years. She recently presented with confusion, which emerged a year after her initial diagnosis. Brain tomography revealed obstructive hydrocephalus, and subsequent investigations ruled out other potential causes, linking the condition to her clinical SLE. After consulting with a neurosurgeon, a ventricular drainage catheter was inserted. In response to this hydrocephalus development, a regimen of pulse steroid therapy was administered. Following this, mycophenolate mofetil was prescribed as an immunosuppressant agent and her clinical condition was successfully stabilized.

Ralstonia mannitolilytica Infections: A Systematic Review of Case Reports Unveiling Clinical Patterns and Therapeutic Insights.

Ralstonia mannitolilytica is an emerging opportunistic pathogen that has been increasingly reported in clinical settings. Despite its low pathogenicity in immunocompetent individuals, it poses a significant threat to immunocompromised patients, particularly those with underlying medical conditions or invasive medical interventions. This study aimed to evaluate the clinical impact and management strategies based on the analysis of individual case reports on Ralstonia mannitolilytica . A comprehensive search of PubMed was conducted from inception until July 31, 2023, using the terms "Ralstonia mannitolilytica" and/or "Pseudomonas thomasii". Inclusion criteria for our systematic review included human-centered case reports of Ralstonia mannitolilytica infections, excluding case series and review articles. Data extraction followed PRISMA guidelines, including study details and patient characteristics. Case reports were systematically assessed using the JBI critical appraisal checklist, evaluating patient demographics, clinical history, diagnostic methods, interventions, post-intervention outcomes, adverse events, and lessons learned to minimize bias risk. A total of 17 case reports of Ralstonia mannitolilytica infections were included in our systematic review. Studies published from 2001 to 2023 revealed diverse global contributions, with 29.41% from China. Infection origins varied, with catheter-related cases being predominant. Mortality was reported in two studies. Antibiotic sensitivity analysis showed sensitivity to third-generation cephalosporins, notably Ceftazidime. Quality appraisal revealed that all studies had a low risk of bias, ensuring the overall robustness of the case reports. This study emphasizes the importance of understanding Ralstonia mannitolilytica infections, given their varied clinical presentations and antibiotic responses. The study also underscores the necessity for precise identification, customized treatments, and ongoing research to manage these infections effectively.

Syphilitic Uveitis With Diverse Clinical Presentations: Multimodal Imaging as a Useful Adjunctive Tool for Diagnosis and Treatment

Syphilitic Uveitis With Diverse Clinical Presentations: Multimodal Imaging as a Useful Adjunctive Tool for Diagnosis and Treatment

Multiple endocrine neoplasia type 1: diverse clinical presentations and diagnostic challenges

Multiple endocrine neoplasia type 1: diverse clinical presentations and diagnostic challenges

A Case Series of Imaging Nuances of Persistent Craniopharyngeal Canal – Connecting the Pharynx to Brain!

Abstract Persistent craniopharyngeal canal (PCPC) is a rare congenital anomaly arising from the incomplete closure of the craniopharyngeal canal during embryological development. Imaging plays a crucial role in identifying and understanding the anatomical characteristics and guiding appropriate management strategies. We present a series of four cases of PCPC with varied and unexpected clinical presentations along with details of imaging nuances and management implications, emphasizing the importance of radiodiagnosis in guiding appropriate management strategies. From incidental diagnosis in an asymptomatic adult to a symptomatic syndromic child, the PCPC has a wide clinico-radiological spectrum of presentation as well as management challenges.

“Amyand’s Hernia - A Case of Right Inguinoscrotal Hernia with Appendiceal Content ”

Introduction: Amyand’s hernia, a rare condition where the appendix becomes lodged in the inguinal canal, poses diagnostic challenges due to its varied clinical presentations and lack of distinctive radiological features. This case underscores the importance of early detection and comprehensive diagnostic evaluation. Case Presentation: A 30-year-old male presented with a two-year history of right inguinoscrotal swelling, culminating in agonizing symptoms and irreducible masses over the inguinoscrotal area. Despite the absence of significant medical history, diagnostic imaging confirmed a complete right inguinoscrotal hernia and bilateral hydrocele with internal echoes. Clinical Discussion: The case illustrates the difficulties in preoperative diagnosis of Amyand’s hernia, emphasizing the reliance on imaging modalities and clinical assessment. Successful surgical intervention involving appendectomy and hernioplasty highlights the necessity for prompt diagnosis and management. Conclusion: This case exemplifies the challenges and complexities associated with Amyand’s hernia, emphasizing the importance of early recognition and comprehensive surgical planning. Moving forward, increased clinical vigilance and awareness are essential to ensure optimal patient outcomes in cases of inguinoscrotal pathology.

Perspectives from the Inaugural "Spinal CSF Leak: Bridging the Gap" Conference: A Convergence of Clinical and Patient Expertise.

The inaugural "Spinal CSF Leak: Bridging the Gap" Conference was organized to address the complexities of diagnosing and treating spinal CSF leaks. This event aimed to converge the perspectives of clinicians, researchers, and patients with a patient-centered focus to explore the intricacies of spinal CSF leaks across 3 main domains: diagnosis, treatment, and aftercare. Physician and patient speakers were invited to discuss the varied clinical presentations and diagnostic challenges of spinal CSF leaks, which often lead to misdiagnosis or delayed treatment. Patient narratives were interwoven with discussions on advanced radiologic techniques and clinical assessments. Treatment-focused sessions highlighted patient experiences with various therapeutic options, including epidural blood patches, surgical interventions, and percutaneous and endovascular therapies. The intricacies of immediate and long-term postprocedural management were explored. Key outcomes from the conference included the recognition of the need for increased access to specialized CSF leak care for patients and heightened awareness among health care providers, especially for atypical symptoms and presentations. Discussions underscored the variability in individual treatment responses and the necessity for personalized diagnostic and treatment algorithms. Postprocedural challenges such as managing incomplete symptom relief and rebound intracranial hypertension were also addressed, emphasizing the need for effective patient monitoring and follow-up care infrastructures. The conference highlighted the need for adaptable diagnostic protocols, collaborative multidisciplinary care, and enhanced patient support. These elements are vital for improving the recognition, diagnosis, and management of spinal CSF leaks, thereby optimizing patient outcomes and quality of life. The event established a foundation for future advancements in spinal CSF leak management, advocating for a patient-centered model that harmonizes procedural expertise with an in-depth understanding of patient experiences.

Diagnosis and treatment of atopic skin syndrome in cats

Background: Feline allergic skin disease presents a diagnostic challenge due to the potentially subtle and widely variable clinical presentations known as feline reaction patterns. Cats are often secretive in their pruritic behaviours and so, unlike with canine disease, the clinical history for a cat may not give insight into the presence of pruritus. Once a diagnosis of feline allergic disease is achieved, there are several treatment options available; however, the majority have not been studied extensively in cats and many represent off‐license use.Aim of the article: This article outlines the relevant steps in making a diagnosis of feline atopic skin syndrome and reviews the treatment options available.

T-Large Granular Lymphocytic Leukemia with Hepatosplenic T-Cell Lymphoma? A Rare Case of Simultaneous Neoplastic T-Cell Clones Highlighted by Flow Cytometry and Review of Literature

Lymphoproliferative diseases are a heterogeneous set of malignant clonal proliferations of lymphocytes. Despite well-established diagnostic criteria, the diagnosis remains difficult due to their variety in clinical presentation and immunophenotypic profile. Lymphoid T-cell disorders are less common than B-cell entities, and the lack of a clear immunophenotypic characteristic makes their identification hard. Flow cytometry turned out to be a useful tool in diagnosing T-cell disorders and to resolve complicated cases, especially if the number of analyzable neoplastic cells is small. We present a case of a 55-year-old man with simultaneous lymphoproliferative neoplastic T-cell clones, one αβ and the other γδ, identified and characterized by flow cytometry (FC), exploiting the variable expression intensity of specific markers. However, the patient’s rapid decline made it impossible to define a differential diagnosis in order to confirm the identity of the γδ clone, which remains uncertain. This case is added to the few other cases already documented in the literature, characterized by the co-existence of T-large granular lymphocytic leukemia (T-LGLL)-αβ and T-LGLL-γδ/Hepatosplenic T-cell lymphoma (HSTCL). Our case underlines the key role of sensitive diagnostic tools in the assessment of potential relationship between the diagnosis, prognosis, and treatment in the two pathologies.

Emerging Hypertension in Young Adults: A Detailed Case Report on Takayasu Arteritis in a 29-Year-Old Female from South India

Abstract Introduction: Takayasu arteritis is a rare vasculitic disorder predominantly affecting young women, characterized by inflammation of the aorta and its major branches usually seen in the East Asian population. Due to its varied clinical presentation, early diagnosis remains challenging, necessitating a high index of suspicion. Case Report: A 29-year-old South Indian female presented with exertional dyspnea to the emergency department and was initially diagnosed and treated as middle lobe pneumonia. Further physical and laboratory evaluations done at that time were unremarkable. Following successful treatment, she remained largely asymptomatic and sought evaluation at the local clinic due to elevated blood pressure detected during home monitoring. On work up of hypertension Echocardiography was done which showed unusual wall thickening of the ascending aorta and mild aortic regurgitation .CT aortogram was then done which revealed aortic thickening and left renal artery stenosis. Confirmation of takayasu arteritis was achieved through PET-CT imaging at a higher tertiary care centre, leading to initiation of immunosuppressive therapy and subsequent percutaneous transluminal angioplasty stenting of the left renal artery. Conclusions: A high index of suspicion is crucial in young females with unusual presentations especially in the South Indian population where the disease is not prevalent. Due to financial constraints it is very likely that appropriate imaging is not done in cases where takayasu arteritis is not suspected by the treating physician. Lack of appropriate work up of hypertension can result in missed diagnoses which can lead to potentially disastrous side effects to the disease Keywords: Takayasu arteritis, young female, vasculitis, immunosuppressive therapy, angioplasty.

Kounis Syndrome: A Comprehensive Review of Pathophysiology, Clinical Manifestations, Diagnostic Challenges, and Therapeutic Strategies

Kounis syndrome, also known as allergic angina or allergic myocardial infarction, is a rare but potentially life-threatening condition characterized by the acute onset of chest pain, myocardial infarction, or sudden cardiac death in the setting of allergic or hypersensitivity reactions. The syndrome encompasses a spectrum of acute coronary syndromes triggered by various allergic insults, including medications, insect stings, food allergens, and environmental exposures. The pathophysiology involves the activation of mast cells and platelets, leading to coronary artery spasm, atheromatous plaque erosion or rupture, and subsequent myocardial ischemia or infarction. Diagnosis can be challenging due to the diverse clinical presentations and the need for a high index of suspicion. Management includes the identification and avoidance of triggers, along with the use of standard therapies for acute coronary syndromes. This review aims to provide a comprehensive overview of Kounis syndrome, focusing on its pathophysiology, clinical manifestations, diagnostic considerations, and therapeutic strategies.

Non-invasive imaging in acute decompensated heart failure with preserved ejection fraction.

Non-invasive imaging plays an increasingly important role in emergency medicine, given the trend towards smaller, portable ultrasound devices, the integration of ultrasound imaging across diverse medical disciplines, and the growing evidence supporting its clinical benefits for the patient. Heart failure with preserved ejection fraction (HFpEF) provides a compelling illustration of the impactful role that imaging plays in distinguishing diverse clinical presentations of heart failure with numerous associated comorbidities, including pulmonary, renal, or hepatic diseases. While a preserved left ventricular ejection fraction might misguide the clinician away from diagnosing cardiac disease, there are several clues provided by cardiac, vascular, and lung ultrasonography, as well as other imaging modalities, to rapidly identify (decompensated) HFpEF. Congestion remains the primary reason why patients with heart failure (irrespective of ejection fraction) seek emergency care. Furthermore, comprehensive phenotyping is becoming increasingly important, considering the development of targeted treatments for conditions exhibiting HFpEF physiology, such as cardiac amyloidosis. Timely recognition in such cases has lasting implications for long-term outcomes.

Qualitative findings from a randomized trial of mindfulness-based and cognitive-behavioral group therapy for opioid-treated chronic low back pain.

This article reports qualitative outcomes from a randomized controlled trial comparing eight weeks of cognitive-behavioral group therapy for chronic pain (CBT-CP) and mindfulness-based group therapy (MBT) in individuals with chronic low back pain (CLBP). Approximately 10 months post-treatment, 108 participants completed structured qualitative interviews to express how the study treatment affected their life or health. Responses were qualitatively analyzed to generate a set of themes and subthemes, with between-groups comparisons to evaluate differences (if any) in treatment-response between MBT and CBT-CP. A majority of participants (n = 88, 81.5%) across both groups reflected positively on the study intervention and outcomes, identifying benefits in pain management (31.5%), meditation and mindfulness skills (25.9%), and relaxation skills (22.2%). Perceived benefits varied widely, suggesting no one intervention may be ideal for CLBP. Future research should examine tailoring interventions to target diverse clinical presentations to achieve optimal outcomes.

EANM consensus document on the use of [18F]FDG PET/CT in fever and inflammation of unknown origin.

Patients with fever and inflammation of unknown origin (FUO/IUO) are clinically challenging due to variable clinical presentations with nonspecific symptoms and many differential diagnoses. Positron emission tomography/computed tomography (PET/CT) with 2-deoxy-2-[18F]fluoro-D-glucose ([18F]FDG) is increasingly used in FUO and IUO, but the optimal diagnostic strategy remains controversial. This consensus document aims to assist clinicians and nuclear medicine specialists in the appropriate use of [18F]FDG-PET/CT in FUO and IUO based on current evidence. A working group created by the EANM infection and inflammation committee performed a systematic literature search based on PICOs with "patients with FUO/IUO" as population, "[18F]FDG-PET/CT" as intervention, and several outcomes including pre-scan characteristics, scan protocol, diagnostic yield, impact on management, prognosis, and cost-effectiveness. We included 68 articles published from 2001 to 2023: 9 systematic reviews, 49 original papers on general adult populations, and 10 original papers on specific populations. All papers were analysed and included in the evidence-based recommendations. FUO and IUO remains a clinical challenge and [18F]FDG PET/CT has a definite role in the diagnostic pathway with an overall diagnostic yield or helpfulness in 50-60% of patients. A positive scan is often contributory by directly guiding treatment or subsequent diagnostic procedure. However, a negative scan may be equally important by excluding focal disease and predicting a favorable prognosis. Similar results are obtained in specific populations such as ICU-patients, children and HIV-patients.

Main mechanisms and clinical implications of alterations in energy expenditure state among patients with pheochromocytoma and paraganglioma: A review.

Pheochromocytoma and paraganglioma (PPGL) are rare neuroendocrine tumors with diverse clinical presentations. Alterations in energy expenditure state are commonly observed in patients with PPGL. However, the reported prevalence of hypermetabolism varies significantly and the underlying mechanisms and implications of this presentation have not been well elucidated. This review discusses and analyzes the factors that contribute to energy consumption. Elevated catecholamine levels in patients can significantly affect substance and energy metabolism. Additionally, changes in the activation of brown adipose tissue (BAT), inflammation, and the inherent energy demands of the tumor can contribute to increased resting energy expenditure (REE) and other energy metabolism indicators. The PPGL biomarker, chromogranin A (CgA), and its fragments also influence energy metabolism. Chronic hypermetabolic states may be detrimental to these patients, with surgical tumor removal remaining the primary therapeutic intervention. The high energy expenditure of PPGL has not received the attention it deserves, and an accurate assessment of energy metabolism is the cornerstone for an adequate understanding and treatment of the disease.

A Hybrid Ameloblastoma in Posterıor Mandible: A Case Report

Objective: Hybrid ameloblastoma refers to the tumors that contain two or more different histologic types of ameloblastoma. Till date, only 49 cases of hybrid ameloblastoma with different combinations have been reported. Here we present a case of hybrid ameloblastoma containing follicular, plexiform, and acanthomatous types. Case Report: A 24-year-old male patient referred to our clinic with a slow-growing asymptomatic swelling on the right side of the mandible. Radiographic assessment revealed a well-defined radiolucent lesion associated with an impacted third molar. Following incisional biopsy, which was compatible with ameloblastoma, total excision of the lesion along with Carnoy fixation was performed. Final histopathologic assessment revealed a hybrid ameloblastic lesion which contained follicular, plexiform, and acanthomatous types. Conclusion: Hybrid ameloblastoma has variable clinical, radiological, and histopathological presentation. As a rare entity, the biological behavior of the lesion still needs to be analyzed extensively with further clinical research. Keywords: Carnoy, Enucleation, Hybrid ameloblastoma.

E039 Multiple myeloma and neurological complications: prevalence and risk factors

Abstract Background/Aims Multiple myeloma (MM) is a malignant haematological disorder with a highly variable clinical presentation. Few studies have explored the neurological complications (CN) associated with MM. The objectives of this study were to describe the neurological manifestations observed in MM and to determine predictive factors for neurological complications. Methods We collected data from 126 cases of symptomatic multiple myeloma patients followed in our department over a 30-year period (1993 - 2023). We gathered sociodemographic, clinical, and laboratory data. Neurological complications were diagnosed based on clinical findings and magnetic resonance imaging data. Results Our study included 126 patients with an average age of 65.23 ± 11.63 years [36-92], and a male-to-female sex ratio of 3.8. Bone pain was present in 92.1% (116 cases) with an average duration of 4 months. The mean erythrocyte sedimentation rate and C-reactive protein levels were 99.08 mm at H1 [3-190] and 27.74 [0-196], respectively. Hemoglobin levels were less than 10g/dl in 51.2% of cases, with an average of 9.902 ± 2.22 g/dl [5-13.9]. Calcium levels exceeded 2.75 mmol/l in 20% of cases, with an average of 2.49 ± 0.33 mmol/l. The mean creatinine level was 88.28 ± 77.9 μmol/l [36-587], with levels above 177 μmol/l observed in 15 cases (10.4%). The Durie and Salmon prognostic classification categorized our patients as follows: Stage IA (3.2%), Stage IIA (4%), Stage IIB (0.8%), Stage IIIA (72.2%), and Stage IIIB (18.3%). Neurological complications were present in 22.2% of patients (n = 28). Sixteen patients (12.7%) had spinal cord compression, with nine having dorsal involvement, six having conus medullaris involvement, and one having cervical involvement. Radicular pain affected 14 patients, with eight experiencing sciatalgia and four having cruralgia. Two patients (1.8%) had carpal tunnel syndrome. No cerebral involvement was observed in our series. In our study, only creatinine levels were significantly lower in patients who developed neurological complications (64.35 vs. 95.19, p = 0.004). However, the occurrence of neurological complications was independent of age (p = 0.696), duration of evolution (p = 0.669), erythrocyte sedimentation rate (p = 0.541), C-reactive protein (p = 0.963), hemoglobin (p = 0.076), or calcium levels (p = 0.274). No association was found between neurological complications and gender (p = 0.849) or prognostic stage (p = 0.119) Conclusion Neurological manifestations in MM are diverse and often underestimated. The diagnosis of MM should be considered in the presence of spinal or radicular compression, especially when the laboratory findings suggest it. Disclosure M. Dhifallah: None. I. Fenniche: None. A. Feki: None. S. Ben Djemaa: None. M. Kallel: None. H. Fourat: None. R. Akrout: None. S. Baklouti: None.

A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts

BackgroundThis report presents a clinical case of syndromic rod-cone dystrophy due to a splice site variant in the ARL2BP gene causing situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts. The presence of renal agenesis and cryptorchidism expands the clinical manifestations due to ARL2BP variants. The detailed, long-term follow-up contributes valuable insights into disease progression, aiding clinical diagnosis and patient management.Case PresentationThe male patient complained of photophobia as the first symptom when he was 20 years old followed by nyctalopia, loss of central visual acuity and peripheral visual field ten years later. Genetic analysis identified a likely pathogenic homozygous variant (c.294-1G > C) involving the splicing acceptor site of intron 4. Reported symptoms together with full-field stimulus threshold testing, electroretinogram and advanced multimodal imaging allowed us to recognize the typical characteristics of a mixed retinal dystrophy. Despite the end-stage retinal disease, this patient still retained a useful residual vision at 63 years and had a slow disease progression during the last 5 years of evaluation.Discussion and conclusionsOur findings underscore the variable clinical presentation of ARL2BP variants, emphasizing the importance of a nuanced approach in diagnosing and managing patients. The presence of renal cysts warrants consideration of a differential diagnosis, particularly with Senior-Loken (SLS), Bardet-Biedl (BBS) and Joubert syndromes (JS) but also with Short Rib Thoracic Dysplasia 9, highlighting the need for careful phenotypic evaluation in these cases.