Calcium Chaos in Sarcoidosis: A Tale of Severe Hypercalcemia's Diagnostic Challenge.

Sarcoidosis is a systemic inflammatory condition characterized by noncaseating granulomas. Lung involvement is typical, while extrapulmonary manifestations, notably lymphadenopathy, are observed in a significant proportion of cases. The etiology involves complex interactions among immune cells and mediators, resulting in granuloma formation capable of independently producing 1,25-dihydroxyvitamin D, leading to unregulated hypercalcemia and hypercalciuria. Diagnosis can be challenging, especially when hypercalcemia is the initial symptom. The presence of noncaseating granulomas on biopsy is characteristic of sarcoidosis. We present a case of severe hypercalcemia in a 53-year-old woman, initially suggestive of primary hyperparathyroidism due to non-suppressed intact parathyroid hormone (PTH) levels and unilateral intrathyroidal tracer uptake on a technetium 99m sestamibi parathyroid scan. The patient presented with hypertension, acute kidney injury, and severe hypercalcemia. Initial assessment, including a parathyroid scan, hinted at primary hyperparathyroidism. However, further evaluation, including chest computed tomography (CT) and endobronchial biopsy, revealed sarcoidosis with noncaseating granulomas. Prednisone therapy led to normalization of serum calcium and creatinine levels. The case underscores the complexities in diagnosing sarcoidosis, especially when presenting with severe hypercalcemia. Despite non-suppressed PTH and suggestive imaging, the final diagnosis relied on endobronchial biopsy findings. The study highlights the limitations of conventional diagnostic markers, emphasizing the need for a comprehensive and individualized approach.

Atypical Presentation of a Type A Aortic Dissection in a Patient With an Undiagnosed Genetic Predisposition.

A 60-year-old female with a past medical history of hypertension presents to the ED with one day of throbbing left knee pain with associated numbness that worsened with ambulation. EKG shows lateral T-wave inversions with no prior for comparison. The patient had bloodwork drawn and a chest x-ray ordered. Her pain was improving with acetaminophen, and during further workup, she went into cardiac arrest. The advanced cardiac life support protocol was initiated, the patient was intubated, and point-of-care ultrasound revealed pericardial effusion. Despite all her efforts, she couldn't regain consciousness and was pronounced dead. An autopsy confirmed that the patient suffered a type A aortic dissection (AD), with findings indicating a predisposing genetic component. This case confirms that type A AD can present with different clinical symptoms and that a high index of suspicion is crucial in providing lifesaving measures.

Rhinovirus infection presenting with symptomatic hyponatremia-Atypical presentation of a common infection.

Key Clinical Message: Rhinovirus infection has the potential to exhibit unconventional symptoms like symptomatic hyponatremia. Health care professionals should remain vigilant about this potential complication, especially in cases with uncommon presentations. Timely identification and effective management of hyponatremia can mitigate potential complications and enhance patient prognosis. Abstract: The syndrome of inappropriate secretion of antidiuretic hormone (SIADH) is a prominent contributor to low sodium levels. Various factors can contribute to hyponatremia, affecting the diagnosis and treatment of the condition. Of note, some infections have been identified as potential causes of SIADH. Although rhinovirus infection has been linked to SIADH, it is usually associated with severe respiratory infections. Herein, we present a distinctive case where rhinovirus caused significant hyponatremia symptoms, even in the absence of typical respiratory symptoms or fever.

An Insight Into Various Manifestations of Leptospirosis: A Unique Case Series From a State in Eastern India.

BACKGROUND: Leptospirosis presents with highly variable clinical manifestations affecting different organ systems in different individuals. The presentation ranges from an asymptomatic or mild disease to a severe disease associated with multiorgan failure and higher mortality. Leptospirosis is highly underreported due to a lack of diagnostic modalities and less suspicion among clinicians. METHODOLOGY: We present this single-center retrospective case series of 12 cases, which include various common and uncommon scenarios by which the disease can present and can be missed due to lack of suspicion. The study contains individual patient characteristics including demographic, laboratory, clinical, and treatment data. The association between these variables and mortality was analyzed using p-values and results were described. A p-value of<0.05 was considered statistically significant. RESULTS: A total of 12 cases were included in the study. The male-to-female ratio was 3:1. The mean age was higher (37.75±9.81 years) in cases who died than those who recovered (34.25±14.09). Factors like history of alcoholism, presence of chronic liver disease (CLD), jaundice, acute renal failure, requirement of dialysis, and requirement of intensive care were significantly associated with increased risk of death (odds ratio >1, p-value <0.05). The most common symptom of presentation was fever in 11 (91.66%) cases. Jaundice and renal failure were significantly associated with death (odds ratio 1.2, p-value 0.04). The requirement of intensive care treatment (odds ratio 2.1, p-value 0.05) and dialysis (odds ratio 39.66, p-value 0.03) were also significantly associated with death. The percentage of death was lower in the group of patients who received combination antibiotic therapy. CONCLUSION: Leptospirosis has varied presentations in different individuals and the diagnosis can be missed due to lack of specific signs and symptoms. Severe diseases involving multiple organs and preexisting comorbidities are associated with higher mortality rates. Timely diagnosis and treatment are necessary to reduce mortality and increase survival.

Invasive Pulmonary Aspergillosis in an Immunocompetent Patient: An Atypical Presentation.

Invasive pulmonary aspergillosis (IPA) is a severe fungal infection primarily affecting immunocompromised individuals. However, rare cases of IPA in immunocompetent patients have been reported, presenting diagnostic and therapeutic challenges. Here, we present a case of a 41-year-old immunocompetent male who presented with fever, cough with mucoid expectoration, and breathlessness. Despite the absence of traditional risk factors, imaging and laboratory findings led to the diagnosis of IPA. Prompt initiation of antifungal therapy resulted in clinical improvement. This case highlights the importance of considering IPA in the differential diagnosis of respiratory symptoms, even in immunocompetent individuals.

"TB - Mindedness"-the only way to beat "the great mimicker": A case series with atypical presentation of female genital tuberculosis.

BACKGROUND: Incidence of Tuberculosis (TB) cases in India reported in 2019 is 193 per 1 lakh population [National Tuberculosis Elimination Plan (NTEP)]. In India, annual extra pulmonary TB burden is 20-25%, of which 4% of cases are of urogenital origin (Revised National TB Control Programme, 2019; World Health Organization, 2019). The Ministry of Health and Family Welfare has made a target of eliminating tuberculosis by 2025 under the NTEP by the process of identification, notification and treatment of cases. Tuberculosis being a leading cause of infertility in developing countries, employing best clinical practices and being "TB-minded" will also save the patient of enormous anxiety and uncertainity and also decrease the time gap between clinical presentation and diagnosis to optimize fertility outcome. METHODOLOGY: A prospective cohort study of cases presenting with unusual findings and ultimately being diagnosed as genital tuberculosis was conducted in the gynaecology OPD, AIIMS, New Delhi, from November 2020 to November 2021 (1 year). Patients were investigated judiciously, diagnosis made and followed up for their response to anti tuberculosis therapy (ATT). RESULTS: This data comprises of conglomerate of ten cases with unconventional exhibition of genital tuberculosis. 70% of the cases presented with pain lower abdomen not specifically related to menstrual cycle and often confused with IBD. Tubo ovarian mass (70%) mimicking as simple ovarian cyst, ovarian carcinoma or endometriosis was the most common clinical finding we came across.

Tuberculous meningitis with stroke: A case report of diagnostic dilemma and therapeutic triumph.

Tuberculous Meningitis (TBM) is a rare manifestation of Mycobacterium tuberculosis infection affecting the meninges. We present a case of a 40-year-old male initially presenting with neurological deficits mimicking ischemic stroke. Despite classic signs, including fever, headache, and neck stiffness, TBM was initially overlooked, leading to delayed treatment. Comprehensive assessment, imaging findings, and characteristic cerebrospinal fluid findings, confirming TBM with tubercular stroke. The patient responded positively to antitubercular therapy and steroids. This case underscores the diagnostic challenges of TBM, emphasizing the need for a broad differential diagnosis, particularly in regions with a high tuberculosis prevalence. Recognition of atypical presentations is crucial for timely intervention and improved outcomes.

Lessons from a scoping review: Clinical presentations of central centrifugal cicatricial alopecia.

BACKGROUND: Central centrifugal cicatricial alopecia (CCCA) nomenclature describes a typical clinical presentation of cicatricial hair loss that begins on the vertex scalp with progressive, symmetric, and centrifugal evolution. However, atypical presentations have been noted clinically by the authors and reported in the literature. OBJECTIVE: We sought to characterize the distribution of hair loss in published cases of adult patients with CCCA. METHODS: A 3-step search process was used to evaluate research articles in Cumulative Index to Nursing & Allied Health, EMBASE, Google Scholar, MEDLINE, Scopus, and Web of Science databases. Studies with scalp photography or description of hair loss distribution were included. Three researchers evaluated eligible studies for clinical subtypes. Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Review was used to report results. RESULTS: Ninety-nine studies consisting of 281 cases of CCCA were included. Hair loss distributions included variants of the classic presentation along with distinct subtypes such as patchy, occipital, parietal, frontal, temporal, and trichorrhexis. LIMITATIONS: Studies had significant homogeneity, as the classic distribution of CCCA was commonly reported. Additionally, clinically diagnosed cases may have concurrent diagnoses, and numerous studies did not report trichoscopy findings. CONCLUSION: CCCA terminology may not always be reflective of clinical presentation. Understanding atypical presentations is essential to inform appropriate and targeted treatment.

Definitions and Measurements for Atypical Presentations at Risk for Diagnostic Errors in Internal Medicine: Protocol for a Scoping Review.

BACKGROUND: Atypical presentations have been increasingly recognized as a significant contributing factor to diagnostic errors in internal medicine. However, research to address associations between atypical presentations and diagnostic errors has not been evaluated due to the lack of widely applicable definitions and criteria for what is considered an atypical presentation. OBJECTIVE: The aim of the study is to describe how atypical presentations are defined and measured in studies of diagnostic errors in internal medicine and use this new information to develop new criteria to identify atypical presentations at high risk for diagnostic errors. METHODS: This study will follow an established framework for conducting scoping reviews. Inclusion criteria are developed according to the participants, concept, and context framework. This review will consider studies that fulfill all of the following criteria: include adult patients (participants); explore the association between atypical presentations and diagnostic errors using any definition, criteria, or measurement to identify atypical presentations and diagnostic errors (concept); and focus on internal medicine (context). Regarding the type of sources, this scoping review will consider quantitative, qualitative, and mixed methods study designs; systematic reviews; and opinion papers for inclusion. Case reports, case series, and conference abstracts will be excluded. The data will be extracted through MEDLINE, Web of Science, CINAHL, Embase, Cochrane Library, and Google Scholar searches. No limits will be applied to language, and papers indexed from database inception to December 31, 2023, will be included. Two independent reviewers (YH and RK) will conduct study selection and data extraction. The data extracted will include specific details about the patient characteristics (eg, age, sex, and disease), the definitions and measuring methods for atypical presentations and diagnostic errors, clinical settings (eg, department and outpatient or inpatient), type of evidence source, and the association between atypical presentations and diagnostic errors relevant to the review question. The extracted data will be presented in tabular format with descriptive statistics, allowing us to identify the key components or types of atypical presentations and develop new criteria to identify atypical presentations for future studies of diagnostic errors. Developing the new criteria will follow guidance for a basic qualitative content analysis with an inductive approach. RESULTS: As of January 2024, a literature search through multiple databases is ongoing. We will complete this study by December 2024. CONCLUSIONS: This scoping review aims to provide rigorous evidence to develop new criteria to identify atypical presentations at high risk for diagnostic errors in internal medicine. Such criteria could facilitate the development of a comprehensive conceptual model to understand the associations between atypical presentations and diagnostic errors in internal medicine. TRIAL REGISTRATION: Open Science Framework; www.osf.io/27d5m. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/56933.

Anaplastic Large Cell Lymphoma of the Spine: Report of a Rare Case.

This abstract discusses a rare case of anaplastic large cell lymphoma (ALCL) involving the cervical and dorsal spine in a 17-year-old female. ALCL is a distinct subtype of lymphoma characterized by abnormal proliferation of lymphocytes and is divided into ALK-positive and ALK-negative subtypes. Spinal involvement in ALCL is uncommon, particularly in the cervical and dorsal regions. The patient presented with persistent fever, weakness, and delayed onset of severe neck pain. Diagnosis involved imaging, bone marrow biopsy, and lymph node biopsy. Treatment strategies for ALCL typically involve a multimodal approach, including chemotherapy, radiotherapy, and targeted therapy. However, due to the rarity of spinal involvement, treatment decisions are based on extrapolation from other ALCL cases. Prognosis is influenced by disease stage and ALK status, but specific outcomes for spinal involvement remain poorly established. This case emphasizes the need for considering lymphoma in patients with unexplained symptoms and abnormal imaging findings. It highlights the importance of further research to improve the understanding and management of ALCL with spinal involvement.

A Diagnostic Dilemma and Classification Conundrum: Atypical Histiocytic Neoplasm Presenting as a Calvarial Mass.

Histiocytic disorders are a wide range of disorders arising from abnormal proliferation and infiltration of dendritic cells. The Histiocyte Society has arranged the disorders into five main groups: L, C, M, R, and H. We present a case in which an elderly woman presented with a solitary osseous lesion in her skull in the right anterior calvarium. Biopsy and histological studies were strongly positive for cyclin D1; positive for CD68, S100, and ZBTB46; weakly positive for OCT2; and equivocal for ALK1 and CD163. Genomic studies also identified KRAS and GPS2 mutations. KRAS-positive genomic analysis favors a diagnosis of histiocytoma, while the solitary calvarium and spontaneous resolution with remission favor a diagnosis of Langerhans cell histiocytosis (LHC). Despite the strong clinical evidence favoring LCH, our patient's clinical and histologic features did not fit any of the five histiocytic categories and were classified as an atypical histiocytic disorder.

Atypical Lyme Disease Rash: A Case Report.

Lyme disease (LD), caused in the United States primarily by Borrelia burgdorferi sensu lato, is a tick-borne illness characterized by a spectrum of clinical manifestations depending on the stage of illness. Most clinicians are familiar with the classic bullseye appearance of the erythema migrans (EM) rash that occurs in the early stage of the disease. However, many providers may not be aware of alternate appearances for the rash. This paper reports the case of a 69-year-old female with LD, exhibiting an atypical rash with purplish discoloration that was devoid of an outer ring or central clearing. In geographic areas with a high incidence of LD, it is especially important for clinicians to recognize alternative LD presentations. Healthcare providers should maintain a high index of suspicion of LD in patients with tick bites, even without typical EM, to ensure early diagnosis and treatment. Education on diverse LD presentations is crucial for improving public health outcomes.

Progressive supranuclear palsy phenotype as an atypical clinical presentation of Creutzfeldt-Jakob disease: A case report and review of the literature.

Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive neurodegenerative disorder, characterized by the accumulation of abnormal prion proteins in the brain. While CJD has some typical clinical features, its presentation can be quite heterogeneous, particularly in the early stages of the disease, posing challenges in diagnosis. Atypical manifestations of CJD can mimic various neurodegenerative disorders, including atypical parkinsonisms. In this case report, we present an 81-year-old man who exhibited an atypical clinical presentation of sporadic CJD, initially resembling progressive supranuclear palsy (PSP). The patient presented with symmetric parkinsonism, postural instability, and ocular motor dysfunction, accompanied by rapid clinical deterioration. Alongside the case report, we also provide a review of the literature on atypical presentations of CJD as PSP, highlighting the importance of recognizing these manifestations in clinical practice.

Type B Aortic Dissection Masquerading As Acute Pyelonephritis: Think Beyond Measures.

Aortic dissection (AD) is a life-threatening medical emergency with a high mortality rate if misdiagnosed; therefore, an urgent and precise diagnosis is crucial for prompt treatment. This article presents a rare case report of AD with an atypical clinical presentation that led to delayed diagnosis and a complicated clinical course. Herein, we aim to contribute to the existing literature by providing insights into the varied presentations of AD and offering valuable lessons for clinicians faced with similar diagnostic scenarios. A 64-year-old female with an extended history of hypertension and other comorbidities presented to the emergency department with a one-day duration of right-sided loin pain and fever. Her blood investigations demonstrated evidence of leukocytosis and high c-reactive protein (CRP) levels. She was preliminarily treated as a case of acute pyelonephritis since, initially, clinical and radiographic evidence did not yield an alternative diagnosis. Despite antibiotics, her condition deteriorated, and her urine output became less than 0.5 mL/kg/hour for six consecutive hours. Additionally, the obtained urine culture was negative on the third day of admission, which made the medical team repeat her history taking and clinical examination, revealing a previously overlooked weight loss. This red flag prompted the medical team to conduct thorough chest and abdominal imaging studies in search of any hidden malignancy, especially when her thyroid function test returned normal. Surprisingly, a contrast-enhanced abdominal CT scan demonstrated an infarcted right kidney by thromboembolism that originated from the partially obstructive thrombus in the proximal abdominal aorta, which was later confirmed to be a type B AD by a CT angiogram. A multidisciplinary team guided her treatment, which included carefully controlling her blood pressure, using anticoagulants, and closely monitoring the patient. The take-home messages of this case report underscore the critical importance of recognizing atypical clinical presentations of AD, overcoming diagnostic challenges through comprehensive approaches, tailoring treatments to individual patient needs, and advocating for a multidisciplinary and patient-centered approach to enhance overall clinical outcomes.

Sensorineural hearing loss as an atypical presentation of typhoid fever: A case report.

Typhoid fever, also known as enteric fever, is a multisystemic infection primarily caused by Salmonella enterica serotype Typhi, and less commonly by Salmonella enterica serotypes Paratyphi A, B, and C. The classic presentation includes fever, malaise, diffuse abdominal pain, and constipation. If left untreated, typhoid fever can progress to delirium, obtundation, intestinal haemorrhage, bowel perforation, and death within a month of onset. However, the clinical course can deviate from the classic stepladder fever pattern, which now occurs in as few as 12% of cases.1 In this report, we describe an atypical presentation as sensorineural hearing loss in an otherwise healthy young male.

Ischemic Stroke as a Form of Presentation of Aortic Dissection: A Case Report.

Aortic dissection is a rare condition with a high mortality rate, the clinical manifestations of which depend on the involvement of aortic branches. We describe the case of a male patient with neurological deficits accompanied by dorsal-lumbar pain and exuberant sympathetic hyperactivity, diagnosed with ascending and descending aorta dissection, initially managed in the prehospital setting. This case reinforces the importance of maintaining high levels of suspicion for rare causes of cerebrovascular accidents.

A Case Report Describing Hemophilus parainfluenza Recovered From Pleural Effusion.

Hemophilus parainfluenza, a less common pathogen typically found in the oropharyngeal flora, has been associated with various clinical conditions. However, its role in pleural effusions remains scarcely documented. We present a unique case of a 42-year-old female with a history of asthma, hypertension, and obesity who presented with epigastric pain and a moderate right-sided pleural effusion. Hemophilus parainfluenza was isolated from the pleural fluid despite an atypical, asymptomatic presentation without pneumonia. Antibiotic treatment led to a positive response, highlighting the importance of recognizing Hemophilus parainfluenza as a potential causative agent in pleural effusion cases.

Infrequent Presentations of Chronic NPM1-Mutated Myeloid Neoplasms: Clinicopathological Features of Eight Cases from a Single Institution and Review of the Literature.

Non-acute myeloid neoplasms (MNs) with NPM1 mutations (NPM1mut-MNs) pose a diagnostic and therapeutic dilemma, primarily manifesting as chronic myelomonocytic leukemia (CMML) and myelodysplastic syndromes (MDS). The classification and treatment approach for these conditions as acute myeloid leukemia (AML) are debated. We describe eight cases of atypical NPM1mut-MNs from our institution and review the literature. We include a rare case of concurrent prostate carcinoma and MN consistent with chronic eosinophilic leukemia, progressing to myeloid sarcoma of the skin. Of the remaining seven cases, five were CMML and two were MDS. NPM1 mutations occur in 3-5% of CMML and 1-6% of MDS, with an increased likelihood of rapid evolution to AML. Their influence on disease progression varies, and their prognostic significance in non-acute MNs is less established than in AML. Non-acute MNs with NPM1 mutations may display an aggressive clinical course, emphasizing the need for a comprehensive diagnosis integrating clinical and biological data. Tailoring patient management on an individualized basis, favoring intensive treatment aligned with AML protocols, is crucial, regardless of blast percentage. Research on the impact of NPM1 mutations in non-acute myeloid neoplasms is ongoing, requiring challenging prospective studies with substantial patient cohorts and extended follow-up periods for validation.

Breast cancer's hidden partner: meningoencephalitis as a paraneoplastic revelation: a rare presentation of invasive ductal carcinoma of breast: a case report.

Introduction and importance: Paraneoplastic neurologic syndromes encompass a group of neurologic disorders arising from pathological processes unrelated to metastasis, metabolic disturbances, infections, coagulopathy, or treatment-related side effects. These syndromes can affect various regions of the nervous system, resulting in diverse clinical manifestations. Case presentation: The authors present a rare case of anti-amphiphysin-associated meningoencephalitis in a South Asian Pakistani woman. Initially, the patient was managed for suspected infectious meningitis, but empirical treatment failed to yield improvement. Subsequent investigations unveiled a paraneoplastic syndrome secondary to breast cancer. Discussion: Diagnosing these clinical entities is challenging due to their multifaceted presentations, often leading to delayed identification, increased patient suffering, economic burdens, and preventable complications. Conclusion: Anti-amphiphysin-associated meningoencephalitis is a rare manifestation of paraneoplastic syndromes. It is crucial to raise awareness among healthcare professionals about the diverse presentations of paraneoplastic syndromes.

Elderly patients with non-specific complaints at the emergency department have a high risk for admission and 30-days mortality.

BACKGROUND: Older adults have complex medical needs that causes increased use of resources at the emergency department (ED). The prevalence of non-specific complaint (NSC) as a chief-complaint in the ED is common among older adults and is not prioritized even though possibly having worse clinical outcome. The objective was to study hospital admission and mortality for older adults visiting the ED with NSC compared to specific complaints such as dyspnea, chest pain and abdominal pain. METHODS: A retrospective observational study of older adults visiting the ED with NSC and specific complaints; dyspnea, chest pain and abdominal pain was performed. Chief-complaint were collected from electronic medical records. Fatigue, confusion, non-specific complaints, generalized weakness and risk of falling were defined as non-specific complaint (NSC) when registered as chief-complaint at the ED. Admission rate and 30-days mortality were the primary outcomes. RESULTS: A total of 4927 patients were included in the study based on chief-complaint; patients with chest pain 1599 (32%), dyspnea 1343 (27%), abdominal pain 1460 (30%) and NSC 525 (11%). Patients with dyspnea and NSC had the highest hospital admission rate 79% vs 70% compared to patients with chest pain (63%) and abdominal pain (61%) (p = < 0.001). Patients with NSC had a mean LOS 4.7 h at the ED which was significantly higher compared to chest pain, dyspnea and abdominal pain. Mean bed-days for the whole population was 4.2 days compared to patients with NSC who had a mean LOS of 5.6 days. NSC and dyspnea were both associated with the highest 30-day mortality. CONCLUSION: Older patients who present with NSC at the ED are associated with a high risk for admission and 30-days mortality. In addition, patients with NSC have a longer LOS at the ED, a high admission rate and the highest number of bed-days once admitted. This study indicates that ED staff should be more vigilant when an elderly patient presents with NSC at the ED. Further studies and guidelines are needed to improve the management of these individuals.