Extensive Workup Research Articles

Early identification of macrophage activation syndrome in adult-onset Still’s disease: a case report and literature review

BackgroundAdult-onset Still’s disease (AOSD) is a rare systemic inflammatory disorder characterized by high spiking fevers, evanescent rash, and polyarthritis. A serious complication of AOSD is macrophage activation syndrome (MAS), a life-threatening hyperinflammatory condition that can lead to multiorgan failure if not promptly diagnosed and treated.ObjectiveThis case report and literature review focus on the early identification of MAS in patients with AOSD, highlighting diagnostic challenges, differential diagnoses, and the utility of scoring systems like the HScore and MS score in clinical practice.Case presentationWe report the case of an 80-year-old woman who presented with a complex diagnostic challenge involving AOSD complicated by MAS and concurrent cytomegalovirus (CMV) infection. Her clinical course was marked by recurrent high fevers, cytopenias, hyperferritinemia, and liver dysfunction. Despite extensive workup, initial diagnoses of infections and autoimmune conditions were considered and ruled out. The HScore and MS score were calculated to be 210 and 1.607, respectively, both indicative of MAS. The patient was treated according to the HLH-94 protocol, with high-dose dexamethasone and etoposide, alongside broad-spectrum antimicrobial and antiviral therapy. She responded well to treatment, with resolution of fever and improvement in clinical symptoms.DiscussionThe overlap between AOSD and MAS symptoms complicates early diagnosis, making scoring systems critical in differentiating MAS from other conditions. The HScore and MS score provided a structured approach to diagnosis, guiding timely intervention and improving the patient’s prognosis. Our literature review emphasizes the importance of early recognition and integration of these scoring systems into routine clinical practice to enhance outcomes.ConclusionThis case underscores the necessity of early identification and intervention in MAS associated with AOSD. The application of diagnostic scoring systems like the HScore and MS score is essential for prompt diagnosis and effective treatment, ultimately improving patient survival rates.

Clinical spectrum of positional downbeat nystagmus: a diagnostic approach.

Positional downbeat nystagmus (pDBN) is a common finding in dizzy patients, with etiologies ranging from benign paroxysmal positional vertigo (BPPV) to central vestibular lesions. Although peripheral pDBN often presents with distinct clinical features that differentiate it from BPPV, diagnosing its etiology can be challenging. A thorough clinical evaluation, including the physical characteristics of the nystagmus, response to positional maneuvers, and neurological findings, is often sufficient to diagnose conditions that provoke pDBN such as anterior canal BPPV, atypical posterior canal BPPV, and central causes. However, when the diagnosis remains uncertain, a brain MRI focusing on the posterior fossa is required. In human lesion models, the vestibulocerebellum (nodulus and uvula) is commonly implicated in pDBN. Central causes of positional vertigo include vascular events, tumors, immune mediated, toxicity, and demyelinating diseases. Ultimately, a significant number of cases will remain without a clear etiology despite extensive workup. Clinicians should be vigilant for signs suggesting central vestibular dysfunction at follow-up in cases of apparently refractory BPPV. The aim of this work is to provide a comprehensive overview of pDBN and offer a logical approach to its assessment, along with recommendations for future research directions.

Multicentric Mucinous Adenocarcinoma of Bilateral Eyelids.

A 59-year-old female patient presented with a purple, fluid-filled lesion on her left upper eyelid that contained a solid component. Excisional biopsy revealed a diagnosis of mucinous adenocarcinoma. Extensive oncological workup was negative for a distant primary tumor or metastasis and confirmed a diagnosis of primary mucinous adenocarcinoma. Further excision and eyelid reconstruction were required. One year later, another suspicious, fluid-filled lesion was excised from the patients' left lower eyelid. Biopsy and subsequent oncological workup confirmed a mucinous adenocarcinoma in situ, a known precursor of primary mucinous adenocarcinoma. This case contributes to the limited literature reporting multicentric primary mucinous adenocarcinoma of the eyelids and suggests that there may be underlying factors that heighten a patient's risk for developing these tumors.

Predicting work ability impairment in post COVID-19 patients: a machine learning model based on clinical parameters.

The Post COVID-19 condition (PCC) is a complex disease affecting health and everyday functioning. This is well reflected by a patient's inability to work (ITW). In this study, we aimed to investigate factors associated with ITW (1) and to design a machine learning-based model for predicting ITW (2) twelve months after baseline. We selected patients from the post COVID care study (PCC-study) with data on their ability to work. To identify factors associated with ITW, we compared PCC patients with and without ITW. For constructing a predictive model, we selected nine clinical parameters: hospitalization during the acute SARS-CoV-2 infection, WHO severity of acute infection, presence of somatic comorbidities, presence of psychiatric comorbidities, age, height, weight, Karnofsky index, and symptoms. The model was trained to predict ITW twelve months after baseline using TensorFlow Decision Forests. Its performance was investigated using cross-validation and an independent testing dataset. In total, 259 PCC patients were included in this analysis. We observed that ITW was associated with dyslipidemia, worse patient reported outcomes (FSS, WHOQOL-BREF, PHQ-9), a higher rate of preexisting psychiatric conditions, and a more extensive medical work-up. The predictive model exhibited a mean AUC of 0.83 (95% CI: 0.78; 0.88) in the 10-fold cross-validation. In the testing dataset, the AUC was 0.76 (95% CI: 0.58; 0.93). In conclusion, we identified several factors associated with ITW. The predictive model performed very well. It could guide management decisions and help setting mid- to long-term treatment goals by aiding the identification of patients at risk of extended ITW.

Gamna-Gandy bodies in renal neoplasms: A multi-institutional clinicopathologic study of 350 consecutive nephrectomies.

Gamna-Gandy (GG) bodies are sclerosiderotic nodules composed of iron pigment and calcium, that have been described predominantly in the spleens of patients with sickle cell disease. Their formal depiction in the kidney is mainly limited to case reports and small series. We aimed to investigate the incidence of GG bodies and associated clinicopathologic features in consecutive nephrectomies performed for renal tumors. Slides of consecutive nephrectomies for renal neoplasms at 3 institutions were reviewed by genitourinary pathologists, with detailed clinicopathologic features recorded. The incidence of GG bodies in our nephrectomy cohort was 13% (44/350). The most common tumor exhibiting GG bodies was clear cell renal cell carcinoma (RCC) (40/44), followed by papillary RCC (2/44), chromophobe RCC (1/44), and epithelioid angiomyolipoma (1/44). Most RCCs were pathologic stage pT3a (46%). GG bodies were intratumoral in 77%, peritumoral in 5%, and both in 18% of patients. They were focal in 43% and multifocal in 57%, with the largest focus ranging from 0.2 to 7mm (mean 1.7mm). Background fibrosis and hemosiderin laden macrophages were commonly associated (93% for both). All tumors demonstrated cystic elements. In 2 renal tumor specimens, an extensive fungal workup was performed and was negative; the "structures" were not formally recognized as GG bodies in either specimen. GG bodies are not an uncommon finding in renal tumors, particularly in clear cell RCC. Awareness of the morphologic appearance is crucial to avoid mistaking them for fungal structures or other organisms.

The role of PET/CT SCAN in addressing autoinflammatory diseases; A case report of a young man presenting with fever, splenomegaly and exanthem.

Adult-onset Still's disease (AOSD) is an uncommon autoinflammatory syndrome characterized by quotidian fever, arthritis, evanescent exanthem and splenomegaly. Lymphadenopathy is present in about a half of patients; it is usually symmetrical with the cervical area being most commonly involved. When constitutional symptoms are present, an extensive work-up should be performed in order to exclude hematological malignancies, such as lymphoma. A 38-year-old male is presented due to fatigue and high-grade fever that first appeared a month ago. He did also refer night sweats, arthralgias and an evanescent erythema on the trunk and anterior thigh area. Serology testing for bacteria and viruses as well as autoimmune rheumatic diseases was requested. Whole body computed tomography (CT) scan was ordered and displayed a marginal lymph node in the right hilum and smaller ones in the axillary region. Positron emission tomography/CT (PET/CT) with fluorine-18-fluoro-deoxy-glucose (18F-FDG) showed hypermetabolic lymph nodes, with the right upper internal jugular lymph node being the most dominant, as well as diffusely increased 18F-FDG uptake by bone marrow and spleen, posing in the differential diagnosis a neoplastic disease of the hematopoietic tissues. Further laboratory testing showed high ferritin levels. It was decided to procced with biopsy of the aforementioned hypermetabolic internal jugular lymph node and bone marrow. Histopathological examination did show hyperreactivity and no malignant cells neither in the lymph node nor in the bone marrow. Adult-onset Still's disease is a rare disorder and it is a diagnosis of exclusion. High-grade fever along with arthralgias, splenomegaly, high serum ferritin levels and the presence of exanthem should pose high in the differential the AOSD. In this case, PET/CT guided the anatomical location for lymph node biopsy in order to differentiate AOSD from lymphoma. The dissociated increased 18F-FDG uptake from the cervical and axillary lymph nodes is characteristic of AOSD.

Autoimmune Psychosis as a Differential Diagnosis of Primary Schizophreniform Psychosis in Children and Adolescents.

Objective: Autoimmune psychosis (AP), defined as an isolated schizophreniform psychosis with no or only minimal neurological abnormalities stemming from autoantibody-associated cerebral processes, is a very rare and potentially underdiagnosed disorder in children and adolescents. Methods: This article reports the case of a 13-year-old boy who became acutely ill with a psychotic disorder following a respiratory infection. We describe the diagnosis and course of treatment in detail. Results: Following an extensive interdisciplinary workup, a probable glutamic acid decarboxylase (GAD)-associated AP was diagnosed that ultimately remitted completely with treatment. Conclusions: Autoimmune psychoses remain a relatively uncharted territory for the specialty of child and adolescent psychiatry. Good interdisciplinary cooperation is essential for patients with somewhat atypical psychotic symptoms, both in terms of diagnosis and treatment.

Perianal Paget Disease With an Enteric Phenotype and Associated In-Situ/Dysplastic Glandular Component: Report of a Potentially Novel Entity and Review of the Literature.

Extramammary Paget disease is an uncommon cutaneous malignancy that primarily affects areas rich in apocrine glands. Here, we aim to present an 84-year-old woman with a distinctive perianal neoplastic process comprised of conventional Paget disease with an intertwined in-situ glandular component. Rare foci of glands embedded in pools of mucin were also identified in the most recent excision, consistent with mucinous adenocarcinoma. Immunohistochemical staining demonstrated an enteric phenotype of the tumor cells, with expression of keratin 20, caudal type homeobox transcription factor 2 (CDX2), and special AT-rich sequence binding protein 2 (SATB2) (patchy, weak); keratin 7 and BerEP4 staining were also noted. Molecular analysis via next generation sequencing revealed pathogenic variants in ERBB2, TP53, and SF3B1. Given the unique histomorphology and immunohistochemical staining pattern, suspicion for a colorectal primary tumor was high, however; extensive workup including imaging, testing for tumor markers, and colonoscopic evaluation has not identified any other lesion thus far. Multiple biopsies and excisions in the area demonstrated recurrent disease over a 4-year span; with no evidence of deep invasion or metastasis. This tumor appears to be exceptional among reports in the literature given its extensive in-situ glandular component; and we are not aware of any documented SF3B1 mutation to date. Disease recurrence in this patient highlights the need for clinical vigilance. Defining the molecular profile in these lesions can also be useful, particularly when assessing potential treatment options for advanced disease.

Macrophage Activation Syndrome in a Patient with Systemic Lupus Erythematous Triggered by Tuberculous Meningitis.

Hemophagocytic lymphohistiocytosis (HLH), is characterized by systemic uncontrolled inflammation resulting from immune dysregulation secondary to various triggers, including genetics, infections, autoimmune diseases, and malignancies. Macrophage activation syndrome (MAS) is an immune dysregulation phenomenon, in which an underlying rheumatological disease is present. We report a rare, interesting case of a middle-aged female, with a systemic lupus erythematosus (SLE) flare complicated by macrophage activation syndrome (MAS), in which tuberculous meningitis (TBM) was the identified trigger. A 48-year-old female with an African ethnic background, diagnosed with SLE, presented with a 2-week history of high-grade fever, cough, and worsening arthralgia. She was initially admitted with suspected SLE flare secondary to community acquired pneumonia and was started on broad-spectrum antibiotics. Later during her hospital stay, she underwent extensive workup because of her clinical condition, as she had continuous spikes of fever, progressive cytopenia, accompanied with acute confusion state despite treatment. She was ultimately diagnosed with SLE flare complicated by MAS secondary to TBM in view of persistent fever, neuropsychiatric symptoms, hyperferritinemia and hypertriglyceridemia, supported by bone marrow aspiration findings, a tuberculosis (TB) positive contact and supporting cerebrospinal fluid analysis suggestive of TBM. She was immediately started on pulse doses of steroids and anti-tuberculosis medications in which significant clinical improvement was observed. She was discharged home, with continuity of care done at the outpatient department in addition to continuity of physical rehabilitation. Given the wide range of clinical presentations and similarities between SLE and the life-threatening MAS, it is essential to maintain a high level of suspicion to establish the diagnosis and promptly start the necessary treatment to ensure better clinical and survival outcomes. The wide range of clinical presentation of hemophagocytic lymphohistiocytosis/macrophage activation syndrome (HLH/MAS) makes it a challenging diagnosis. Hence, a high index of suspicion is necessary to establish the diagnosis and promptly start the necessary treatment.The mainstay of treatment is the early identification and management of the underlying etiology of MAS along with high-dose glucocorticoids and other immunosuppressive therapy targeting the immune dysregulation pathway.

Hypothermia as a Presenting Sign of Venlafaxine-Induced Neonatal Abstinence Syndrome in 2 Neonates.

Maternal antidepressant use has increased during the past 2 decades, with venlafaxine emerging as a common agent during pregnancy. Both venlafaxine and its active metabolite possess prolonged half-lives in adults; however, abrupt discontinuation may lead to withdrawal including irritability, jitteriness, lethargy, restlessness, and insomnia. The drug and its metabolite readily cross the placenta, posing additional considerations during pregnancy. Two neonates were admitted to our hospital on 5 and 6 days of life with hypothermia and lethargy among other symptoms of neonatal abstinence syndrome (NAS) requiring an extensive medical workup. Both neonates were exposed to venlafaxine in utero and exclusively fed infant formula since birth. Given that venlafaxine crosses the placenta and into breastmilk, NAS was suspected as a result of the abrupt discontinuation of venlafaxine upon delivery, and the decision was made to introduce mothers' breast milk. Symptoms of NAS, including hypothermia, resolved in both patients. The reported incidence of NAS with venlafaxine alone is limited, likely due to variation in breastfeeding practices among new mothers. Diagnosis of NAS due to venlafaxine requires a high index of suspicion because symptoms are nonspecific and the presentation may be delayed after birth. The effective treatment of NAS using mothers' breast milk illustrates the importance of counseling mothers to provide breast milk as a preventative strategy for withdrawal in their newborns. The cases involving the 2 neonates described in this article emphasize the importance of assessing in utero exposure to medications beyond the immediate newborn period and their possible role in causing unusual symptoms in newborns.

Microvesicle Tissue Factor Procoagulant Activity Is Elevated and Correlated With Disease Severity in Patients With Cirrhosis.

Tissue factor-expressing microvesicles (MV-TF) have been found to correlate with thrombotic complications in various diseases. Simultaneously, there is expanding research regarding the effect of the coagulation cascade on liver fibrosis progression. The aim of our manuscript was to evaluate MV-TF activity in patients with cirrhosis and its correlation with disease severity. We prospectively enrolled 82 patients [11 with cirrhosis and hepatocellular cancer (Group 1), 50 with cirrhosis (Group 2) and 21 controls (Group 3)]. Extensive workup for disease staging and exclusion criteria was undertaken. Exclusion criteria included thrombophilia, history of thrombosis, recent hospitalisation, ongoing infection, alcohol dependence, cancer, haematological diseases and use of anticoagulant, antiplatelet or contraceptive drugs. Plasma tissue factor antigen concentration and MV-TF activity were assessed. MV-TF showed median values of 4.03 [1.57], 3.17 [1.59] and 2.26 [1.23] pg/mL in Groups 1, 2 and 3, respectively. There was a statistically significant difference between Groups 1 and 3 (p < 0.001) and Groups 2 and 3 (p = 0.003), while Group 1 had higher values than Group 2 without statistical significance (p = 0.088). In Group 2, the patients' Child-Pugh (CP) stage was A in 56%, B in 26% and C in 18% of cases. MV-TF activity significantly correlated with decompensated cirrhosis (p = 0.005) and higher CP stage (p = 0.011). Finally, MV-TF activity significantly correlated with 12-month mortality (p = 0.021). MV-TF activity is elevated in patients with cirrhosis, showing a significant correlation with disease severity. MV-TF may play a role in the procoagulant imbalance of liver cirrhosis and their contribution in disease progression should be studied further.

Hypercalcemia due to Elevated 1,25 dihydroxyvitamin D in Tophaceous Gout - Case Report and Literature Review

Granulomatous diseases can cause hypercalcemia due to elevated 1,25-dihydroxyvitamin D through the production of 1-α hydroxylase by macrophages in the granulomas. Tophaceous gout is not considered to cause this picture. However, there are a few case reports of this occurrence in tophaceous gout, as well as the description of intense 1-α hydroxylase activity in granulomas of tophi in gout patients. We review this literature, and we report a well-documented case of hypercalcemia with elevated serum 1,25 dihydroxyvitamin D in a patient with extensive tophaceous gout and tophi loaded with granulomas. An extensive work-up ruled out other causes of hypercalcemia and granulomatous diseases. Prednisone corrected the chemical abnormalities. Diffuse tophaceous gout should be considered a rare cause of hypercalcemia due to excessive 1,25 dihydroxy vitamin D.

Management of Melanoma in Elderly Patients over 80 Years.

Melanoma is a malignant tumour with a poorer prognosis in stage III and IV patients. Development of effective therapies for the treatment of advanced melanoma has led to an improvement in survival. Furthermore, the French population is ageing, and treatment of melanoma in this population has several specific limitations. This descriptive, retrospective, single-centre study collected data on the diagnostic and therapeutic management of patients with melanoma of Breslow ≥ 1 mm or of unknown primary and metastatic spread, at Limoges University Hospital, between 2018 and 2022, and compared the results obtained between 2 groups: under 80 and over 80 years of age; 344 patients were included. The extension work-up was more frequently complete and the sentinel lymph node technique more frequently performed in patients under 80. Wide excision was more frequently in accordance with guidelines in patients over 80. Adjuvant or first-line metastatic treat-ment was more frequently instituted in patients under 80, but no difference was found as regards the second and third lines, the frequency of adverse events, and the reason for stopping treatment. Our study supports similar management of elderly and young subjects, given the safety profile and efficacy of treatments.

Next-Generation Sequencing in Diagnosis of Monogenic Cholestatic Liver Disorders: A Single-Center Experience

Introduction: Cholestasis in childhood is a rare clinical condition, yet a definitive diagnosis is crucial for initiating treatment of these curable diseases and preventing related morbidity and mortality. The most common cause of infant cholestasis is biliary atresia (25–40%), followed by monogenic cholestatic diseases (25%), metabolic diseases (20%), and cryptogenic cholestasis. This study focuses on assessing the clinical utility of next-generation sequencing (NGS) panels, including clinical exome sequencing and whole exome sequencing, in diagnosing cholestatic diseases when the etiology cannot be elucidated through conventional methods. Materials and Methods: We conducted a retrospective examination of pediatric patients who sought care at a single-center pediatric gastroenterology department between August 2020 and March 2022 and were diagnosed with cholestasis. A total of 36 patients underwent a thorough investigation to rule out infectious, toxic, metabolic, structural, chromosomal, and endocrine causes. Patients whose diagnoses were established through traditional investigations were excluded from the study. The remaining 14 patients underwent either whole exome sequencing or targeted NGS methods. Results: A definitive diagnosis was achieved for 12 patients, while 2 patients remained undiagnosed despite comprehensive genetic examinations. The most commonly encountered diseases in this cohort were progressive familial intrahepatic cholestasis, linked to mutations in the ABCB11, ATP8B1, and TJP2 genes, as well as Dubin-Johnson syndrome associated with ABCC2 mutations. NGS demonstrated a diagnostic accuracy of 85.7% in patients for whom a diagnosis could not be established through extensive traditional workup. Conclusion: NGS emerges as a valuable diagnostic tool in cases of cholestasis where traditional methods fall short in providing a definitive diagnosis. Moreover, our study unveiled three previously undocumented variants in the ABCB11 [c.1165G>C; p.(Ala389Pro) and c.783 + 1G>A] and ABCC2 [c.4246_4247del; p.(Lys1416ValfsTer46)] genes.

Abstract 4112944: A diagnostic challenge overcome with persistent clinical suspicion in a case of cardiac AL amyloidosis

Case: A 62-year old male with a history of chronic kidney disease and paroxysmal atrial fibrillation presented with several months of fatigue, a progressive decline in functional status (NYHA IIIb-IV), weight loss, and intermittent lower extremity swelling. Blood pressure was 92/72 mmHg on presentation, and heart rate was 90 bpm. Physical examination revealed a jugular venous pressure of 12-14 cm H2O and 2+ bilateral lower extremity edema with mild wheezing. Methods/workup: Laboratories are shown in Table 1 and were notable for a serum free light chain ratio of 0.14. Transthoracic echocardiogram (figure 1) revealed a left ventricular (LV) ejection fraction of 33% with increased LV wall thickness and severe bi-atrial enlargement. Bone marrow biopsy revealed 2% lambda restricted plasma cells without evidence of amyloid deposits; metastatic bone survey was negative. A fat pad biopsy and endomyocardial biopsy stained negative for amyloid with Congo red. Cardiac MRI showed diffuse, circumferential subendocardial late gadolinium enhancement, most compatible with cardiac amyloidosis (figure 2). The patient also had a chest CT scan that demonstrated a few patchy nodular pulmonary infiltrates. Given his extensive negative workup, he was referred to pulmonary and endobronchial biopsy was positive for amyloid on Congo red staining (figure 3). Biopsy tissue typing revealed Lambda subtype AL amyloidosis. Management: The patient was started on Daratumumab, Cyclophosphamide, Bortezomib, and Dexamethasone by Hematology. Unfortunately, about a month after his diagnosis, he developed worsening heart failure despite treatment. He was admitted to an outside hospital with refractory cardiogenic shock and passed away during that admission. Discussion: The diagnosis of AL amyloidosis requires a high index of suspicion for prompt diagnosis and treatment. We present a case in which cardiac amyloidosis was suspected based on the patient’s clinical picture and cardiac imaging; however, multiple initial biopsies were negative. An expedited, multimodal and interdisciplinary diagnostic assessment is imperative as prognosis with chemotherapy is highly dependent on extent of AL disease, patient functional status, and presence of cardiac compromise. Elevated natriuretic peptides, troponins, autonomic dysfunction, and hypotension are negative prognostic features.

Transformation sarcomateuse de la tumeur royale chez une patiente atteinte de la maladie de Recklinghaussen à Lomé (Togo)

Introduction: malignant tumors including soft tissue sarcomas can occur during neurofibromatosis type 1. We report a case of sarcomatous degeneration of a plexiform neurofibroma with multivisceral metastases in a Togolese patient with neurofibromatosis type 1. Observation: A 33-year-old female patient with neurofribromatosis type 1 presented with an altered general condition, pain and changes in the appearance of the plexiform tumour of her neurofibromatosis, which had been evolving for one month. Physical examination revealed multiple coffee-white spots (greater than 10), with tumours of soft consistency and variable size, scattered over the body. There was also a larger tumour (approx. 9cmx6 cm), located on the inside of the left ankle, fixed, firm and painful to palpation. The abdomen was enlarged and tender, with no tenderness or contracture. Examination of lymph nodes was normal. Anatomopathological examination of the biopsy-exeresis of this tumour revealed a proliferation of clusters of small, rounded, undifferentiated cells with reduced cytoplasm and hyperchromatic nuclei, with clear anisokaryosis and numerous atypical mitotic figures. There were also a few vascular emboli. We therefore concluded that this plexiform neurofibroma was malignant, and the extension work-up revealed pulmonary, pancreatic and adrenal metastases. The patient died 3 weeks after diagnosis in respiratory distress. Conclusion: Malignant degeneration of plexiform neurofibromas is possible in patients with neurofibromatosis type 1. It is therefore important to monitor these patients for early detection in order to limit the risk of metastasis and death.

The Value of a Pet Scan in Selecting the Best Lymph Node to Biopsy, and Confirming the Diagnosis of Idiopathic Multicentric Castleman Disease with HLH And EBV Viremia in a Previously Healthy Adult.

Castleman disease (CD) is a rare lymphoproliferative disorder having a variegated clinical presentation. Diagnosis of the idiopathic HIV- and HHV8-negative multicentric CD (iMCD) subtype poses a challenge given its non-specific clinical manifestations. iMCD presents as diffuse lymphadenopathy with inflammatory manifestations, primarily driven by interleukin-6 (IL-6). Treatment includes suppressing the inflammation by targeting IL-6 with monoclonal antibodies such as siltuximab and, in severe cases, immuno-chemotherapy to control B- and plasma-cell activation. A previously healthy 43-year-old male presented to the emergency department with fever, night sweats, anasarca, anaemia, thrombocytopenia and acute renal insufficiency. Extensive blood and imaging workup was initiated. Several diagnoses were entertained including viral infections (comprising COVID-19), haemophagocytic lymphohistiocytosis, lymphoma and autoimmune conditions. Initial axillary lymph node biopsy was not diagnostics. A positron emission tomography (PET) scan showed diffuse and symmetrical cervical and hilar/mediastinal lymphadenopathies. A mediastinal lymph node biopsy was then performed and indicated iMCD. The patient was treated with high-dose steroids and siltuximab. An Epstein-Barr virus (EBV) PCR was positive, and rituximab was added to the treatment. The patient recovered and felt well after two months. Non-specific symptoms, non-diagnostic first biopsy and iMCD resemblance to haemophagocytic lymphohistiocytosis further complicated the diagnosis. A PET scan allowed the best selection of a lymph node to be biopsied. Anti-IL6 is the recommended treatment; however, we are lacking information on the duration of siltuximab, and the long-term toxicity and immunosuppressive effect of this treatment. The contribution of EBV reactivation in the development and treatment of iMCD needs further investigation. A positron emission tomography (PET) scan is important to identify the optimal lymph node biopsy site for diagnostics.Epstein-Barr virus reactivation has a role in the pathogenesis and treatment choice of idiopathic multicentric Castleman disease.

Adenocarcinoma of unknown primary presenting with congestive heart failure in a middle-aged Ethiopian woman: a case report

BackgroundHeart failure is a rare manifestation of metastatic disease of the carcinoma of an unknown primary, malignancy that requires extensive work-up to identify the primary site. Initial consideration of rare etiologies in patients presented with a common clinical syndrome is challenging.Case presentationA 35-year-old Black woman presented with shortness of breath at rest, orthopnea, paroxysmal nocturnal dyspnea, chest pain, a blood-tinged productive cough, and fever for 2 weeks. She also had progressive body swelling, easy fatigability, loss of appetite, and abdominal pain during the same week’s duration. Body imaging revealed large pleural and pericardial effusions, metastatic liver lesions, and bilateral pulmonary vascular segmental and subsegmental filling defects. Pericardial and pleural fluid cytology suggest malignant effusion. Liver lesions and core needle biopsy indicated adenocarcinoma of unknown origin, and the carcinoembryonic antigen level also increased significantly.ConclusionCarcinoma of unknown primary origin commonly presents in an advanced stage and is often accompanied by clinical features of site metastasis. This case highlights heart failure as an unusual first manifestation of adenocarcinoma with an unknown primary origin.

Abstract 350: Optimizing Stroke Assessment of Dizziness: The Role and Impact of Video Head Impulse Testing

Introduction Dizziness is a frequent and challenging symptom in patients with posterior ischemic stroke, often making it difficult to distinguish from peripheral vestibular disorders. The video head impulse test (vHIT) is a non‐invasive tool that measures the vestibulo‐ocular reflex (VOR) to assess semicircular canal function. This study evaluates the effectiveness of vHIT in the emergency department (ED) for differentiating between central (stroke‐related) and peripheral causes of dizziness. The primary objective is to confirm that vHIT is an effective tool for enhancing diagnostic confidence in ruling out stroke and avoiding unnecessary admissions, thereby optimizing resource allocation for other stroke patients. Methods In this prospective study, 30 patients who presented to the ED of the stroke center with dizziness and were subsequently admitted under standard stroke protocol were analyzed. Each patient underwent vHIT in addition to the standard stroke evaluation, which included MRI. The vHIT assessed the VOR in the lateral semicircular canal to detect vestibular hypofunction through measured gain reduction and saccadic eye movements. Two specialists independently analyzed the vHIT results, both blinded to the MRI findings. Results Of the 30 patients included in the study, MRI was performed on 27, serving as the gold standard for stroke detection. MRI confirmed the presence of a stroke in 10 cases (37%). Among these patients, the vHIT indicated a possible central etiology in 9 patients, with a sensitivity of 100% (95% CI: 66.37% to 100%). One patient's vHIT recordings were of poor quality, making the results uninterpretable. In the subgroup of 17 patients with negative MRI findings, vHIT suggested a peripheral cause of dizziness in 2 patients. The specificity of vHIT for central etiology was 15.38% (95% CI: 1.92% to 45.45%) with a negative predictive value of 100% (95% CI: 15.81% to 100.00%) and a positive predictive value of 40.97% (95% CI: 35.50% to 46.67%). One patient with a negative MRI but positive vHIT for peripheral etiology was unnecessarily admitted for 3 days. Conclusion Our findings suggest that incorporating vHIT into the ED workflow could be an effective strategy for ruling out stroke before proceeding with extensive stroke admissions and workups. vHIT appears to be a valuable tool in the initial assessment of patients with dizziness, facilitating the differentiation between central and peripheral causes. This approach has the potential to reduce unnecessary hospital admissions for patients without central pathology.

Pancreatic cystic neoplasms: work-up and surveillance

Whereas pancreatic masses are often difficult to detect with transabdominal ultrasound, cross-sectional imaging features high sensitivity for the pancreatic tumors. However, increasing availability of magnetic resonance imaging (MRI) has led to a surge in the detection of benign or precancerous pancreatic lesions. The medical history is characteristic only for two entities. A history of acute or chronic pancreatitis favors a benign pseudocyst while weight loss or jaundice are suggestive of malignancy. More challenging is the classification of asymptomatic cysts, which often require extensive work-up and, in advanced stages, pancreatic resection. In case of overdiagnosis and overtreatment, this is also referred to as VOMIT: victims of modern imaging technology (1). On the other hand, it is important to identify precancerous lesions that should be monitored with the aim of timely recognizing progression towards invasive cancer. The aim of this overview is to focus on incidentally detected pancreatic cystic lesions with a description of the investigations and surveillance. Pancreatic cancer and pseudocysts are beyond the scope of this review. However, the latter are discussed in terms of differential diagnoses, as pseudocysts are occasionally found by chance in everyday clinical practice, but should not be monitored.