Unusual Clinical Manifestations Research Articles

Brain abscess caused by Streptococcus pyogenes with atypical symptoms: a case report and literature review.

Streptococcus pyogenes is a common gram-positive bacterium, belonging to group A Streptococcus (GAS), and is responsible for causing a range of clinical conditions. Brain abscess caused by GAS is uncommon in pediatric infectious diseases, and GAS brain abscess without acute infectious symptoms has been rarely reported. We present a case of one GAS brain abscess in a previously healthy child with unusual clinical manifestations of decreased muscle strength in the left limbs. The right frontal lobe mass lesion was resected using a microscope-based neuronavigation system. A sole defectively beta-hemolytic Streptococcus pyogenes was isolated from the lesion. The patient's peripheral blood whole-exome and the pathogen's whole-genome sequencing were performed respectively, revealing a heterozygous mutation in the interferon regulatory factor-8 (IRF8) gene in the patient and lack of hyaluronic acid capsules in Streptococcus pyogenes (genotype emm22). The patient eventually recovered after prompt surgical drainage of the abscess and appropriate antibiotic treatment. It is important to pay attention to Streptococcus pyogenes brain abscesses with mild clinical manifestations. Upon reviewing all the cases of pediatric GAS brain abscess reported in the published literature, we discovered that early diagnosis and treatment are crucial factors that impact the prognosis of GAS brain abscess.

Varicella-Zoster Virus Encephalitis with Hyponatremia in an Immunocompetent Elderly Patient: A Case Report

As a common cause of viral encephalitis, varicella-zoster virus (VZV) may invade the central nervous system of immunosuppressed patients during reactivation. Herein, we report a rare case of an immunocompetent patient with VZV encephalitis who developed severe hyponatremia and was considered to have a suspected primary infection. The patient was diagnosed with the support of second-generation sequencing and had persistent hyponatremia after being cured. Although rare, this case suggests that VZV encephalitis may occur in unexpected patients and present with unusual clinical manifestations, requiring advanced detection methods and clinical expertise for resolution.

Cerebrospinal fluid-induced stable and reproducible SERS sensing for various meningitis discrimination assisted with machine learning

Cerebrospinal fluid (CSF)-based pathogen or biochemical testing is the standard approach for clinical diagnosis of various meningitis. However, misdiagnosis and missed diagnosis always occur due to the shortages of unusual clinical manifestations and time-consuming shortcomings, low sensitivity, and poor specificity. Here, for the first time, we propose a simple and reliable CSF-induced SERS platform assisted with machine learning (ML) for the diagnosis and identification of various meningitis. Stable and reproducible SERS spectra are obtained within 30 s by simply mixing the colloidal silver nanoparticles (Ag NPs) with CSF sample, and the relative standard deviation of signal intensity is achieved as low as 2.1%. In contrast to conventional salt agglomeration agent-induced irreversible aggregation for achieving Raman enhancement, a homogeneous and dispersed colloidal solution is observed within 1 h for the mixture of Ag NPs/CSF (containing 110–140 mM chloride), contributing to excellent SERS stability and reproducibility. In addition, the interaction processes and potential enhancement mechanisms of different Ag colloids-based SERS detection induced by CSF sample or conventional NaCl agglomeration agents are studied in detail through in-situ UV–vis absorption spectra, SERS analysis, SEM and optical imaging. Finally, an ML-assisted meningitis classification model is established based on the spectral feature fusion of characteristic peaks and baseline. By using an optimized KNN algorithm, the classification accuracy of autoimmune encephalitis, novel cryptococcal meningitis, viral meningitis, or tuberculous meningitis could be reached 99%, while an accuracy value of 68.74% is achieved for baseline-corrected spectral data. The CSF-induced SERS detection has the potential to provide a new type of liquid biopsy approach in the fields of diagnosis and early detection of various cerebral ailments.

Unusual Extra Pulmonary Clinical Manifestation as Initial Presenting Feature of COVID-19 and its Management: A Systematic Review of Case Reports

Corona virus disease 2019 (COVID-19) is primarily an infectious disease of the respiratory system. COVID-19 might have unusual extra pulmonary clinical manifestations as initial symptoms. This systematic review included case reports published from January 2020 to June 2022 in English language that met the following criteria: unusual clinical manifestations as a sole or first initial manifestation of COVID-19, Confirmed positive Reverse Transcription Polymerase Chain Reaction (RTPCR) and real time RTPCR COVID-19 patients, no history of pre-existing co morbidities or any family, past, personal history and complete details of patients with their management. All the case reports were identified in PubMed and Sciencedirect database. The systematic review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and MetaAnalyses. A total of 14537 studies were screened and 46 case reports were included in this review. In 46 case reports, there were 49 patients (three case reports had two patients) in which 32 were males and 17 were females. Majority of the patients experienced neurological manifestations followed by gastrointestinal manifestations, haematological manifestations and ocular manifestations. Health care professionals should be aware and alert about unusual extra pulmonary clinical manifestations of COVID-19 patients; this would help in making timely diagnosis and accurate treatment of COVID-19 patients.

Secondary recurrent syphilis in a patient with HIV infection. Clinical case

Relevance. HIV infection is a chronic sexually transmitted infectious disease. Given the single route of transmission, quite often HIV-infected patients develop a syphilitic infection. At the same time, syphilis against the background of HIV infection has its own clinical characteristics. It is important for doctors of various specialties to know these features.Description of the case. A clinical case of secondary syphilis and early neurosyphilis in a 52-year-old patient with HIV infection is presented.Discussion. Patients with HIV infection are characterized by unusual clinical manifestations of syphilis in the form of its malignity, atypical, severe course with the development of various complications. In the article, the authors describe atypical manifestations of papular syphilide of the palms and soles. The effectiveness of specific treatment has been shown.Conclusions. Doctors’ knowledge of the clinical features of syphilis against the background of HIV infection will allow them to avoid diagnostic errors leading to late treatment and the development of complications.

A rare complication of measles infection presented with subacute sclerosing panencephalitis: Report of two cases in India

Rationale: Subacute sclerosing panencephalitis (SSPE) is a progressive neurological disorder caused by persistent measles virus infection. SSPE predominantly affects children and adolescents. The symptoms usually develop 6-15 years after measles infection and ultimately leading to death in many cases. Patient concerns: Patient 1 presented with cognitive decline and myoclonus and the Patient 2 presented with diminution of vision with myoclonic jerks. Diagnosis: Based on the clinical features with a characteristic electroencephalogram pattern and the presence of a high titer of anti-measles IgG in serum and cerebrospinal fluid, these patients were diagnosed as SSPE. Interventions: Antiepileptics were started for controlling myoclonus along with supportive treatment. Outcomes: Both patients were discharged on antiepileptics and supportive care. Lessons: Whenever there are unusual clinical manifestations with unknown vaccination status, SSPE can be suspected and the cerebrospinal fluid should be examined for anti-measles antibodies. Our case study also highlights the importance of universal coverage of measles vaccination. To reduce the incidence of measles and associated deaths, it is important to maintain a high level of immunization coverage for the measles vaccine and to strengthen all the integral components of the national immunization program.

LOCALIZED MYOSITIS AND TRANSIENT ENCEPHALOPATHY AS PRESENTING SYMPTOMS IN MURINE TYPHUS.

Murine typhus in the pediatric population has increased substantially in recent years. The most common clinical presentation of murine typhus includes fever, rash, headaches and myalgias. Murine typhus presenting with predominant myositis and/or encephalopathy is rare. It is important to recognize unusual clinical manifestations of murine typhus in children for early diagnosis and treatment.

Diagnostic Dilemma in Embryonal Rhabdomyosarcoma with Unusual Clinical Manifestation and Positive PAX5 Immunoreactivity: A Case Report and Review of the English Literature

Diagnostic Dilemma in Embryonal Rhabdomyosarcoma with Unusual Clinical Manifestation and Positive PAX5 Immunoreactivity: A Case Report and Review of the English Literature

A Case Report of a Misdiagnosed Mycormucosis: Uncommun Clinical Presentation

Background: Invasive mycormucosis is a rare opportunistic fungal disease with high morbidity and mortality rates, predominantly affecting immunosuppressed patients. An increasing incidence has recently been described particularly among corona virus epidemic. Dentists should be aware of this possible diagnosis instead of just instituting some useless and devastating treatments, and to ovoid the delay that can cost the patient ‘life juste like our case. Clinical presentation: An unusual clinical manifestation of mucormycosis in a 42–year-old _man, diabetic who was referred by his Otorhinolaryngologist, to our dental surgery unit of the university hospital FARHAT HACHED Tunisia, suspecting a facial cellulitis related to dental infection. Before consulting his Otorhinolaryngologist, the patient was suffering from severe dental pain for two months, without any signs of relief despite dental treatments and the pain killers prescribed by his dentist. He was successfully treated by a combination of surgical intervention and antifungal treatment: Amphotericin B. Conclusion: Invasive mycormucosis is an emerging infection and is probably related to an increase in immunosuppressed patients. Accurate oral examination may lead to early diagnosis avoiding further damages of this agressive disease.

The Alarming Resurgence of Dengue Fever with Unusual Clinical Manifestations and Deadly Consequences of 2023 Outbreak in Bangladesh

Background: Dengue fever has become a significant concern in Bangladesh in recent years. The country is currently experiencing the most significant and deadliest outbreak in 2023. In this article, we will delve into the current dengue situation in Bangladesh, analyzing its clinical profile and grave consequences. Materials and methods: This multicentric cross-sectional study analyzed 499 confirmed dengue patients admitted between May 1, 2023, and September 30, 2023, in the Department of Medicine, Popular Medical College and Hospital, and Sir Salimullah Medical College and Mitford Hospital, Dhaka. Patients were categorized into dengue Groups A, B, and C. We tabulated and expressed categorical variables (gender, clinical manifestations, comorbidity, radiological and laboratory findings) as frequencies and percentages and explored relationships between demographics, clinical manifestations, and severity. The chisquare test compared proportions, with p d” 0.05 considered significant. Duration of illness and hospital stay were analyzed using the Mann-Whitney U test. Results: Among 499 patients, the 21-40 age group with a male predominance was most affected. Predominant symptoms were fever and gastrointestinal issues. Bleeding, myalgia, and rash were less common. Group C displayed a shift towards Dengue Shock Syndrome (DSS) rather than Dengue Hemorrhagic Fever (DHF), with 125 patients experiencing shock. Group B exhibited significant ultrasonographic findings, such as ascites, hepatomegaly, and splenomegaly, while Group C had more pronounced radiological findings of pleural effusion and pneumonia, predominantly unilateral right-sided pleural effusion. In both Groups B and C, liver transaminases, serum ferritin, and serum lipase were consistently elevated. Tragically, 9 (1.80%) patients, all in Group C, did not survive. Conclusions: In summary, our study on the current dengue outbreak in Bangladesh indicates a worrying shift to severe Dengue Shock Syndrome, more prevalent than hemorrhagic fever. Prominent gastrointestinal symptoms, less bleeding, and higher mortality in Group C emphasize the crisis. J Bangladesh Coll Phys Surg 2023; 41: 12-20

1281. Ongoing Transmission of Clonal Strains of Invasive Nontypeable Haemophilus influenzae Disproportionately Affecting Persons with HIV in Metropolitan Atlanta, 2019—2022

Abstract Background Nontypeable Haemophilus influenzae (NTHi) is a genetically diverse pathogen that typically causes mucosal infections or invasive NTHi (iNTHi) disease in persons at the extremes of age. In 2017-2018, we reported a significant increase in incident iNTHi in Atlanta among virally-suppressed persons with HIV (PWH) and identified two clonal strains associated with septic arthritis/polyarthritis among Black men who have sex with men. Methods Surveillance data from the CDC-funded Georgia Emerging Infections Program was used to assess interim iNTHi epidemiology in adults ≥ 18 years old in metropolitan Atlanta, including the potential for continued transmission of clonal strains in adults 18-55 years old. Overall incidence of iNTHi and by HIV status from 2019-2022 was determined and compared with prior years; and demographic and clinical data were collected. Whole genome sequencing assessed genetic relatedness of isolates, which were categorized as belonging to cluster 1 or 2 (C1, C2) or non-clustered (NC). Results From 2019-2022 in Atlanta, there were 157 iNTHi cases in adults ≥ 18 years old (median age 56 [Q1-Q3 36-72] years, 59% male, 44% Black), including 29 in PWH. The iNTHi incidence among PWH in 2019-2022 was lower than in 2017-2018 (18.8 vs 41.7 cases per 100,000, respectively, p< 0.01), and higher than in 2008-2016 (9.6 per 100,000; p< 0.01) (Figure). Among iNTHi cases 18-55 years old (2019-2022), 94/95 had isolates available for cluster analysis: 7/94 (7%) and 18/94 (19%) were identified as C1 and C2, respectively. Characteristics of cases differed by clonal status (Table 1): among C1, C2, and NC cases, 6/7 (86%), 7/18 (39%), and 15/69 (22%) involved PWH, respectively; and septic arthritis was present in 1/7 (14%), 8/18 (44%), and zero, respectively. Table 2 provides detailed data on PWH with clonal strains. Conclusion Ongoing transmission of two clonal NTHi strains that are associated with a relatively high prevalence of joint involvement in invasive disease and disproportionately affect Black men and PWH was noted in Atlanta. The C2 clonal strain became more prevalent in 2022. Additional studies are needed to better understand modes of transmission, geographic distribution of clones, and to explore the unusual clinical manifestations to optimize prevention and treatment measures. Disclosures Lauren F. Collins, MD, MSc, Curio Science: Honoraria

Clinical spectrum of manifestations in symptomatic female with Duchenne muscular dystrophy: A concise review

Duchenne Muscular Dystrophy (DMD) is a rare genetic disease, characterized by a severe, progressive muscle-weakening. Due to the localisation of the dystrophin gene in the X chromosome, DMD primarily affects males, but similar dystrophinopathies, that mimic DMD, can occur in females. The aim of this article is to present the main findings described in literature about these unusual dystrophinopathies clinical manifestations in females, in order to ease the practical approach to these conditions This article is a non-systematic review, with a view to presenting a critical review –all articles were researched in public databases PubMed, Medline, ScienceDirect, SciELO and Cochrane. Clinical presentation in female carriers shall vary from the traditional form in regards to the degrees and patterns of dysfunction, justified by the presence of a normal allele, as well as distinctive mutational mechanisms. Usually present with asymmetric bilateral leg weakness, myalgia, cramps, fatigue, calf muscles pseudohypertrophy, and dilated cardiomyopathy. Pathogenic variants in the DMD gene must be considered in the differential diagnosis of myopathic-suggestive clinical conditions, even in unusual presentations, such as female patients with muscular weakness or asymptomatic elevation of creatine kinase.

COVID-19 and Oral Lichen Planus: Between an "Intriguing Plot" and the "Fata Morgana Effect".

The COVID-19 pandemic, caused by the SARS-CoV-2 virus, has led to significant morbidity and mortality worldwide since its declaration as a global pandemic in March 2020. Alongside the typical respiratory symptoms, unusual clinical manifestations such as oral lichen planus (OLP) have been observed. OLP is a chronic inflammatory mucocutaneous dermatosis that results from a cell-mediated reaction, and its pathogenesis involves the loss of immunological tolerance. OLP has been associated with several triggering factors, such as certain drugs, stress, smoking, and even some viruses. Exposure to the spike protein antigen of SARS-CoV-2 during an infection can trigger autoimmune reactions and lead to the onset or flare of OLP. The E3 protein ligase TRIM21, which is identified in the lamina propria of OLP lesions, is overexpressed in COVID-19 patients and plays a critical role in autoimmune pathologies. Furthermore, the psychological stress of the lockdown and quarantine can be a trigger for the onset or exacerbation of OLP. However, the diagnosis of OLP is complex and requires a biopsy in order to confirm a clinical diagnosis, rule out other pathologies, and establish the most appropriate therapeutic procedure. Further research is needed to understand the potential link between Co-19 and OLP.

A Case of an Unusual Clinical Course of Mitral Stenosis

Background. The stage 4 mitral stenosis is accompanied by atrial fibrillation which significantly worsens the prognosis due to the possibility of thromboembolic complications. However, sinus rhythm does not exclude the possibility of thrombosis which sometimes requires differential diagnosis with heart tumors.
 The aim. To present a case of unusual thrombus formation in a patient with significant mitral stenosis on the background of sinus rhythm and describe the specifics of determining indications for surgical intervention.
 Case report. Female patient K., 42 years old, who was admitted on January 12, 2023 to the National Amosov Institute of Cardiovascular Surgery, had been suffering from rheumatism for the past 20 years. In this case, the clinical course of mitral stenosis could be classified as stage 4, since there were signs of severe heart failure (shortness of breath on light exertion, peripheral edema, right-sided pleuritis, pulmonary thrombosis). However, the patient had sinus rhythm, which is more characteristic of the stage 3 mitral stenosis. The patient underwent mitral valve prosthetic surgery and removal of an unusual thrombus from the pulmonary valve cavity on January 23, 2023.
 Conclusions. The course of mitral stenosis, despite its thorough study, may have unusual clinical and instrumental manifestations, which requires differential diagnosis with heart tumors and other diseases. In some cases, the mechanism of thrombus formation can be extremely unusual, which can be a subject for discussion by cardiologists.

The silent, rapidly unfolding threat of mpox spread via international travel to Southeast Asia: Are we ready?

The 2022 mpox (monkeypox) outbreak has been surprisingly large and has raised several novel questions about this disease. New information, such as atypical clinical manifestations and transmission via sexual activities, have been identified. These pose a potential risk of widespread outbreaks due to unusual clinical manifestations and failure to consider mpox as a diagnosis by physicians and the sexual behaviours of some tourists in Southeast Asia. Since Southeast Asia is a popular tourist destination, there is substantial potential for the silent spread of mpox in this region. Consequently, there is an urgent need for effective surveillance measures at points of entry of international travelers to identify suspected cases and their close contacts in order to limit the spread of mpox in Southeast Asia.

Monkeypox virus infection and myocarditis: A review of current evidence and possible pathogenesis.

The recent spread of the monkeypox virus (MPXV), causing monkeypox (mpox), to non-endemic areas, and the atypical and unusual clinical manifestations observed during its 2022 outbreak has focused international interest on the clinical features of the disease. Mpox is usually a self-limiting disease with mild symptoms with common manifestations, including fever and skin lesions; however, severe manifestations could occur in some vulnerable groups (children and those with impaired immune systems) and may present multisystem complications and fatal outcomes. In most cases, a fever is the first sign of disease, followed by the development of various inflammatory lesions on the skin, such as vesiculopustular rashes and ulcers. Pneumonitis, encephalitis, keratitis, secondary bacterial infections, acute kidney injury, and myocarditis are all possible outcomes of the infection. Myocarditis has been reported to be caused by orthopoxviruses, and it is a serious condition of which its pathophysiology is little understood. Recent reports have indicated myocarditis with cardiac involvement as a possible atypical and unusual consequence of the MPXV infection during present outbreak. This review provides an overview of the clinical manifestations of mpox with a special focus on its effects on the heart, including myocarditis. The evidence of the myocarditis in mpox patients and its possible pathogenesis are discussed.

Characterization of AR-CGD female patient with a novel homozygous deletion in CYBC1 gene presenting with unusual clinical phenotype

Chronic granulomatous disease (CGD) is a human IEI caused by mutations in genes encoding the NADPH oxidase subunits, the enzyme responsible for the respiratory burst. CGD patients have severe life-threatening infections, hyperinflammation and immune dysregulation. Recently, an additional autosomal recessive AR-CGD (type 5) caused by mutations in CYBC1/EROS gene was identified.We report a AR-CGD5 patient with a novel loss of function (LOF) homozygous deletion c.8_7del in the CYBC1 gene including the initiation ATG codon that leads to failure of CYBC1/EROS protein expression and presenting with an unusual clinical manifestation of childhood-onset sarcoidosis-like disease requiring multiple immunosuppressive therapies. We described an abnormal gp91phox protein expression/function in the patient's neutrophils and monocytes (about 50%) and a severely compromised B cell subset (gp91phox < 15%; DHR+ < 4%).Our case-report emphasized the importance of considering a diagnosis of AR-CGD5 deficiency even in absence of typical clinical and laboratory findings.

A Case of Mediastinal Carcinosarcoma With Beta-HCG Production and KRAS Mutation.

Carcinosarcomas of mediastinum are rare and only few well-documented cases are available in the literature. We report a detailed description of mediastinal carcinosarcoma with unique clinical manifestations and immunohistochemical and molecular profiles. A 44-year-old female with an enlarging anterior mediastinal mass was found to have a positive pregnancy test. Thoracoscopic biopsy revealed that the mass represented a carcinosarcoma with adenocarcinoma and chondrosarcoma components. The tumor focally expressed beta-HCG by immunohistochemistry and had KRAS G12A missense mutation by next generation sequencing. The case documents a rare presentation of carcinosarcoma within the mediastinum with uncommon paraneoplastic syndrome and genetic profile. Awareness of these unusual clinical and pathological manifestations of the tumor will help in reaching correct diagnosis and proper management of such patients.

LEPTOSPIROSIS AND LIVER ABSCESS: AN UNUSUAL ASSOCIATION.

Leptospirosis is a zoonosis caused by spirochetes of the genus Leptospira; the infection is more commonly reported in tropical regions.Leptospirosis classically manifests as a biphasic illness, the first phase characterized by high fever that coincides with leptospiraemia, followed by a brief period when the patient is afebrile. In the second phase, fever returns, accompanied by jaundice and renal failure.The unusual clinical manifestations of leptospirosis include a previous report of a lung abscess, but despite frequent liver involvement, liver abscess in this context has not previously been described.

A naive human immunodeficiency virus (HIV) patient with extrapulmonary tuberculosis manifestation: diagnosis and management challenges

Background: Co-infection of human immunodeficiency virus (HIV) and extrapulmonary tuberculosis (TB) is common tropical countries and could manifest with diverse clinical manifestations and mimic other diseases. This case report highlights the diagnosis and management challenges of a patient with HIV naive who had pleural and pericardial effusion manifestation due to extrapulmonary TB. Case presentation: A male 48 years old was referred with shortness of breath, cough with phlegm, fever with night sweats. The patient complained of chest tightness and pain, decreased appetite, and weight loss approximately 10 kg in the last six months. The patient had several times having sexual intercourse with prostitutes. White patches were presented on the tongue. The patient was tested twice with three methods for HIV test and yielded inconclusive results. The chest X-ray examination suggested left pleural effusion and echocardiography with the results of pericardial effusion. The patient had thoracentesis with the adenosine deaminase (ADA) test 52 U/L and the culture resulted a positive for Mycobacterium tuberculosis sensitive to rifampicin, isoniazid, ethambutol, and pyrazinamide. The patient was treated with anti-TB. Later, the viral load yielded a value of 1.43x106 IU/mL and the patient was treated with antiretroviral therapy. Conclusion: Due to challenges of diagnose and manage of such co-infection with unusual clinical manifestations, multi-disciplinary approaches are required together with adequate healthcare facilities to support the diagnostics.