Unusual Clinical Manifestations Research Articles

Multimodal Imaging Findings of Cerebral Amyloid Angiopathy Related Inflammation With Unusual Clinical Manifestation: A Case Report

Multimodal Imaging Findings of Cerebral Amyloid Angiopathy Related Inflammation With Unusual Clinical Manifestation: A Case Report

Pulmonary embolism masked by symptoms of mental disorders.

The objective of this article is to draw attention to an unusual clinical manifestation of pulmonary embolism (PE) as symptoms suggesting an underlying mental disorder. This seems all the more important since PE is one of the most common causes of potentially preventable hospital deaths and delayed diagnosis of PE in patients consulted at emergency departments has been shown to be most common in elderly patients and the ones presenting with significantly altered mental status. PE is a life-threatening condition that requires prompt diagnosis and appropriate management. There is no symptom that can be found characteristic for PE. Clinical picture of this condition is varied and may resemble many other disorders. The article emphasises that PE may also manifest with psychopathological symptoms that mimic psychiatric emergencies. Three most common groups of psychopathological symptoms that can mask a developing PE, such as panic attacks, symptoms of psychosis, and catatonia, are discussed here based on the literature review. Particular care must be exercised while evaluating such a patient because initial misdiagnosis results in the patient being referred to a mental health care unit instead of a unit treating somatic disorders. There are no diagnostic or treatment facilities in large psychiatric hospitals to assist such a patient. This, in turn, leads to a significant delay in management and, consequently, to major complications or death.

Bacillary Angiomatosis of Lymph Nodes: Unusual Case Presentation in an Immunocompetent Adolescent

Bacillary angiomatosis is a neovascular proliferative condition caused by the Bartonella group of opportunistic bacteria, commonly occurring in patients with advanced Human Immunodeficiency Virus (HIV) and other immunocompromised conditions. However, cases have also been reported to occur rarely in immunocompetent individuals. Skin lesions such as nodules and papules are the most common manifestations, although cases have been rarely reported in other sites such as the oral cavity, respiratory tract, gastrointestinal tract, and bones. Isolated lymph node involvement or systemic manifestations such as fever, chills, anorexia, and weight loss are very rare. Since Bartonella is a fastidious Gram-negative bacterium that is difficult to grow and isolate in culture, diagnosis relies on histological examination of the affected organ/tissue and demonstration of the causative bacteria using special stains such as Warthin-Starry, Giemsa, Gram’s, and silver stains. Herein, the authors presented a case of bacillary angiomatosis in a 14-year-old immunocompetent adolescent male who presented with recurrent fever and painful enlargement of the axillary lymph nodes. The case is notable for its unusual clinical manifestations of systemic symptoms, specifically anorexia and significant weight loss, leading to suspicion of malignancy. Following the establishment of the diagnosis, the boy experienced complete recovery, with regained appetite and weight, following treatment with a long duration of antibiotics.

Comprehensive Genome Analysis of Neisseria meningitidis from South America Reveals a Distinctive Pathogenicity-Related Prophage Repertoire

Neisseria meningitidis, a bacterium that colonizes in the human nasopharynx, occasionally causes invasive meningococcal disease leading to meningitis or septicemia. Different serogroups and lineages (clonal complexes) are related to the occurrence and epidemiology of N. meningitidis. Despite vaccines for most serogroups, N. meningitidis lineages causing unusual clinical manifestations and a higher fatality rate compared to other lineages have been reported in South America. The present study focused on exploring the diversity of N. meningitidis prophages from South America and their relationship with the epidemiological variables of these strains. We found a high diversity of prophages among the different clonal complexes. By comparing them with previously described N. meningitidis phages and prophages, we revealed groups of prophages sharing similar compositions, which could be useful for prophage comparison in N. meningitidis. Furthermore, we observed a high correlation between the prophage content and epidemiological features, e.g., pathogenicity or clonal complex. Additionally, a distinctive filamentous prophage named here as IMSAR-11 (Invasive Meningococci from South America Related to cc11) was identified. Interestingly, two versions of IMSAR-11, circular and chromosomally integrated, were found. Overall, this study reinforces the importance of the genomic characterization of circulating N. meningitidis lineages to generate new targets for lineage monitoring, diagnosis, or appropriateness of vaccine development. Further studies are necessary to understand the role of these prophages in the persistence, dispersal, and virulence of N. meningitidis in the world.

The World Health Organization's public health intelligence activities during the COVID-19 pandemic response, December 2019 to December 2021.

The coronavirus disease (COVID-19) presented a unique opportunity for the World Health Organization (WHO) to utilise public health intelligence (PHI) for pandemic response. WHO systematically captured mainly unstructured information (e.g. media articles, listservs, community-based reporting) for public health intelligence purposes. WHO used the Epidemic Intelligence from Open Sources (EIOS) system as one of the information sources for PHI. The processes and scope for PHI were adapted as the pandemic evolved and tailored to regional response needs. During the early months of the pandemic, media monitoring complemented official case and death reporting through the International Health Regulations mechanism and triggered alerts. As the pandemic evolved, PHI activities prioritised identifying epidemiological trends to supplement the information available through indicator-based surveillance reported to WHO. The PHI scope evolved over time to include vaccine introduction, emergence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) variants, unusual clinical manifestations and upsurges in cases, hospitalisation and death incidences at subnational levels. Triaging the unprecedented high volume of information challenged surveillance activities but was managed by collaborative information sharing. The evolution of PHI activities using multiple sources in WHO's response to the COVID-19 pandemic illustrates the future directions in which PHI methodologies could be developed and used.

Pseudogout Causing Thoracic Outlet Syndrome

Abstract Introduction/Objective Calcium pyrophosphate dihydrate (CPPD) crystal deposition or pseudogout is a common entity encountered in routine practice. However, when a common entity presents in uncommon locations with unusual clinical manifestations, it creates a diagnostic conundrum. Pseudogout commonly occurs in the joint extremities including knee, wrist, shoulder, hip, and ankle joints. The sternoclavicular joint is a rare site for pseudogout with very low incidence. To the best of our knowledge, there are only two other cases of pseudogout mimicking a tumor causing vascular obstruction in the literature. Methods/Case Report A 63 year old male presented with an enlarging supraclavicular mass. A computed tomography angiography scan of the chest revealed an irregular soft tissue mass located behind the medial clavicle measuring up to 4 cm and was noted to compress and partially occlude the right subclavian vein. Partial occlusion of right axillary vein, right internal jugular vein, and right brachiocephalic vein were also noted on imaging. The venous compression led to outflow obstruction and resultant recurrent deep vein thrombosis of the right upper extremity. Due to compression by the mass, he required stenting of the right subclavian vein which unfortunately reoccluded. Subsequently, the patient underwent excision of the mass and partial resection of the first rib with decompression of the thoracic outlet. The excisional biopsy revealed dense rhomboid-shaped CPPD crystal depositions in irregular nodules within a background of fibrinoid material and fragments of unremarkable cartilaginous tissue. The patients compressive symptoms were relieved following the excision. While clinically and radiologically the mass was concerning for a malignant tumor, histological examination provided a definitive diagnosis of a benign process. Results (if a Case Study enter NA) NA. Conclusion Pseudogout is a rare mimicker of bone and soft tissue tumors and differentiation from an enchondroma, or grade 1 chondrosarcoma becomes a challenge especially on small tissue biopsies and is a possible diagnostic pitfall.

Mixed pulmonary infection with four isolates of nontuberculous mycobacteria: a case report of mycobacterium bacteremicum infection

BackgroundA mixed pulmonary infection of Mycobacterium bacteremicum and three different isolates of nontuberculous mycobacteria (NTM) is an unusual clinical manifestation and have not yet been indicated. In this case report, we reported four isolates of NTM using phenotypic and genotypic test of pulmonary sample in Tehran, Iran.Case presentationWe report a case of severe pulmonary disease in a 19-year-old male patient with productive cough, shortness of breath, and low-grade fever for several weeks. The C-reactive protein (CRP) level (80.2 mg/L) and erythrocyte sedimentation rate (ESR) (95 mm/h) were high. The computed tomographic scan indicated bronchiectasis, nodular opacities, consolidation, and cavitary lesions on both sides. The result of purified protein derivative (PPD) test was equal to 15 mm. The sequences of hsp65, rpoB, and 16S rDNA genes indicated more than 99% homology to four isolates of nontuberculous mycobacteria (NTM), including Mycobacterium fortuitum, M. chelonae, M. mucogenicum, and M. bacteremicum. We found that all four strains were susceptible to amikacin, cefoxitin, ciprofloxacin, clarithromycin, imipenem, and linezolid. The patient was treated with ciprofloxacin, clarithromycin, and amikacin, along with Montelukast, for five months.ConclusionWe report a case of severe pulmonary infection by four isolates of NTM. After treatment, the patient reported complete resolution of the signs and a weight gain of 5 kg; also, the CRP and ESR were normal. Nine months after the infection diagnosis, a new CT scan revealed further improvements.

Orbital ischemia syndrome in a patient with carotid artery dissection - Case report

Background and Aims : Orbital ischemia syndrome is a very rare presentation of ocular ischemic syndrome. The cause is usually vascular pathology in the carotid artery, most often on the basis of atherosclerosis or, more rarely, dissection of the carotid artery. Our aim is to draw attention in the form of a case report to an unusual clinical manifestation of carotid artery dissection.

Demographic aspects, clinical characteristics, and therapeutic approaches in geriatric psoriasis: A study from a tertiary center.

Geriatric psoriasis, due to its unusual clinical manifestations and higher rates of systemic complications in this age group, is a challenging issue for dermatologists. Therefore, we aimed to provide an overview of the epidemiological, clinical, and therapeutic consequences among patients aged over 60 years with psoriasis in a referral center in Iran. This cross-sectional study was conducted on 156 patients over 60 years with the definitive diagnosis of psoriasis that were referred to our center between 2015 and 2019. By reviewing the recorded files of the patients, baseline characteristics including demographics, underlying comorbidities, age of disease onset, clinical type of the disease, clinical manifestations, and therapeutic approaches were extracted. The most common clinical feature was plaque type (73.1%) followed by pustular type (10.9%). The most frequent involved zone was the lower extremities (84.6%). Most of the patients were treated topically (87.1%), while as the most frequent systemic approaches, methotrexate and acitretin were considered for 74.4% and 60.3%, respectively. A significantly higher mean age at disease onset was found in female patients compared to male patients. The plaque type was more prevalent in men than in women. Also, the chance of nail involvement was 2.43 times higher in men than in women (p=0.011, 95%CI: 1.22-4.84). The disease duration was significantly longer in patients suffering from plaque compared to those without this feature. Conversely, those with palmoplantar type experienced shorter disease duration. Psoriatic arthritis was also revealed in patients of lower ages. As in other societies, in our society, clinical characteristics, disease involvement patterns, as well as considered treatment approaches, can be influenced by demographic characteristics.

Diagnosis of peritoneal tuberculosis by real-time immuno-PCR assay based on detection of a cocktail of Mycobacterium tuberculosis CFP-10 and HspX proteins

ABSTRACT Background : Diagnosis of peritoneal TB is difficult owing to unusual clinical manifestations and low sensitivities obtained with most of the available diagnostic modalities. Hence, there is an urgent need to design a reliable and rapid diagnostic test followed by early therapy so as to avoid the complications associated with disease. Research design and methods : We designed a quantitative real-time immuno-PCR (RT-I-PCR) assay to detect a cocktail of Mycobacterium tuberculosis CFP-10 (Rv3874) and HspX (Rv2031c) proteins in clinical samples (ascitic fluids and peritoneal biopsies) of peritoneal TB patients and results were compared with I-PCR/ELISA. Results : A wide range of CFP-10+HspX (0.6 pg/mL to 9.9 ng/mL) was detected in clinical samples of peritoneal TB patients by RT-I-PCR, whereas ELISA exhibited a narrow range (3ng/mL to 11.5 ng/mL). Sensitivities of 81.5% and 65.7%, and specificities of 92.5% and 90%, were obtained in total 78 cases (comprising 38 peritoneal TB and 40 non-TB controls) by RT-I-PCR and I-PCR, respectively. Markedly, sensitivity obtained by RT-I-PCR was significantly higher than I-PCR (p=0.0143) and ELISA (p=0.0005). Conclusions : Our RT-I-PCR revealed good accuracy for the rapid diagnosis of peritoneal TB cases. After further improving the specificity and reducing the cost, this assay may develop into a diagnostic kit.

Follicular Becker Nevus: an Unusual Clinical and Dermoscopic Manifestation.


 
 

Abstract 351: Orbital Ischemia Syndrome In A Patient With Carotid Artery Dissection

Introduction: Orbital ischemia syndrome is a very rare presentation of ocular ischemic syndrome. The cause is usually vascular pathology in the carotid artery, most often on the basis of atherosclerosis or, more rarely, dissection of the carotid artery. Our aim is to draw attention in the form of a case report to an unusual clinical manifestation of carotid artery dissection. Methods: The case report deals with a patient (male, 49 years old) who suffered from intense pain behind the right eye. After a few days of pain, he arrives at the emergency room, where he was sent by a neurologist to the CTA. Preocclusive dissection of the right carotid artery was diagnosed. Neurosonological examination shows a massive reverse flow in the right ophthalmic artery. The pain behind the eye was so intense in the following days that opiate therapy was necessary. Results: Carotid dissection was treated with anticoagulant therapy and a statin. According to the control CTA, the dissection heals at three-month intervals. Neurosonological control also shows normalization of flow in the right ophthalmic artery. The decrease in residual pain intensity even on analgesic therapy correlated with a decrease in the amplitude of retrograde flow in the ophthalmic artery. Conclusion: Painful presentation of ocular ischemic syndrome, moreover caused by carotid artery dissection, is very rare.. However, if intense periorbital pain is present, carotid artery CTA should always be performed as part of the diagnostic proces.

A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficiency

BackgroundTranscobalamin deficiency is a rare inborn metabolic disorder, characterized by pancytopenia, megaloblastic anemia, failure to thrive, diarrhea, and psychomotor retardation.Case presentationWe describe a patient who first presented at 3 months of age, with pancytopenia, hepatosplenomegaly, recurrent infection, metabolic acidosis, and acute hemolytic crisis. Extensive hematologic and immunologic investigations did not identify inherited bone marrow failure syndrome, acute leukemia or its related disorders. Whole exome sequencing identified a novel homozygous TCN2 mutation, c.428-2A > G and mRNA study confirmed an aberrant transcription of exon 4 skipping. The mutant protein is predicted to have an in-fame 51 amino acids deletion (NP_000346:p.Gly143_Val193del). The patient exhibited marked clinical improvement following hydroxocobalamin treatment.ConclusionsTranscobalamin deficiency should be investigated in infants with unexplained pancytopenia and acute hemolytic crisis with or without typical evidence of vitamin B12 deficiency.

An unusual clinical manifestation of coronavirus disease 2019 in a woman with twin pregnancy: a case report

BackgroundAlthough coronavirus disease 2019 affects mainly the respiratory system, as time passes and our understanding of the disease improves, many nonrespiratory clinical manifestations such as thromboembolic events have been shown to occur with or without respiratory tract involvement.Case presentationWe present the case of a 21-year-old gravid 3, live 1, abortion 1 Iranian woman pregnant with twins in her early first trimester. Her initial chief complaint was headache that gradually increased in intensity. Eventually, cerebral vein thrombosis was confirmed. Although the patient first manifested with neurological involvement, she developed upper respiratory symptoms soon after, and then nasopharyngeal polymerase chain reaction test returned positive.ConclusionAny neurological complaints in pregnant women during the current coronavirus disease 2019 pandemic should raise suspicion for the presence of significant cerebral thrombotic or ischemic events, even if the patient has no complaint of respiratory tract involvement and/or when an initial nasopharyngeal polymerase chain reaction test is negative.

Urticarial drug eruption following tocilizumab administration

Tocilizumab is a humanized anti-IL-6 receptor antibody that exerts its immunosuppressive effect by blocking IL-6 receptor-mediated signal transduction and shows therapeutic anti-inflammatory action in autoimmune diseases. On the contrary, several cutaneous adverse reactions have been reported in patients treated with tocilizumab administration. Herein, we report a case of urticarial drug eruption following tocilizumab administration. Interleukin 6 (IL-6) plays a vital role in the pathogenesis of various inflammatory diseases, especially rheumatoid arthritis.1 Tocilizumab is a humanized anti-IL-6 receptor antibody that exerts its immunosuppressive effect by blocking IL-6 receptor-mediated signal transduction2, 3 and shows therapeutic anti-inflammatory action in autoimmune diseases. On the contrary, several cutaneous adverse reactions have been reported in patients treated with tocilizumab administration.4 Herein, we report a case of urticarial drug eruption following tocilizumab administration. A 50-year-old woman had developed rheumatoid arthritis 5 years ago and was treated with methotrexate and certolizumab. She had no history of urticaria. Because her arthritis was intractable by these treatments, tocilizumab was administrated. One month after the repeated tocilizumab administration, she recognized urticarial eruption in trunk and extremities after the second-time administration of tocilizumab (Figure 1). Her eruption occurred in several hours and disappeared within 24 h after the tocilizumab administration. Her eruption continued to repeat the occurrence of urticaria following repeated tocilizumab administration. Blood examination showed that eosinophil frequency in peripheral blood (11.9%) and IgE-RAST (443 U/ml) were elevated, while the white blood cell count (6,000/μl) and CRP (0.04 mg/dl) were within normal ranges. Although an anti-histamine agent showed less response to her eruption, her urticaria completely diminished after switching into certolizumab without the recurrence of her eruption. Tocilizumab was administrated in total 12 times before switching into certolizumab. Because her urticaria was reproducible following every tocilizumab administration recognized as a positive reaction to challenge test, we diagnosed her skin eruption as urticaria following tocilizumab administration. Tocilizumab shows various cutaneous adverse reactions, and the majority of these cases are type IV delayed hypersensitivity reactions. However, this case showed an unusual clinical manifestation of type I allergic reaction. As a reason to cause urticarial eruption, we thought there were several possibilities. The first one is an immune response to additives in this drug. Tocilizumab contains polysorbate 80, which is a synthetic nonionic surfactant and is used in various medications. Polysorbate 80 is also known as one of the representative agents to cause type I allergic reactions.5 Indeed, polysorbate 80 containing medication induces urticaria.6 Although allergic skin test could be conducted in our case, it should be kept in mind a possibility to cause the same skin eruption following polysorbate 80 containing biologic agents. The second one is a pharmacological effect of tocilizumab mediated by the IL-6 blocking pathway. However, IL-6 increases in various types of urticaria,7 suggesting that a pharmacological effect of tocilizumab mediated by the IL-6 blocking pathway might not contribute to the development of urticaria. As another possibility, tocilizumab might become a trigger to produce tocilizumab-specific anti-IgE production and contribute to the development of urticaria. Since there is no case report of urticaria responding to biologics itself, a further case study is expected to conclude the possibility. The authors declare no conflicts of interest. Approval of the research protocol: No. Informed Consent: N/A. Registry and the Registration: N/A. Animal Studies: N/A.

Unusual clinical manifestations and predominant stopgain ATM gene variants in a single centre cohort of ataxia telangiectasia from North India

Germline ATM gene variations result in phenotypic heterogeneity characterized by a variable degree of disease severity. We retrospectively collected clinical, genetic, and immunological data of 26 cases with A-T. Clinical manifestations included oculocutaneous telangiectasia (100%), ataxia (100%), fever, loose stools or infection (67%), cerebellar atrophy (50%), nystagmus (8%), dysarthria (15.38%), and visual impairment (8%). Genetic analysis confirmed ATM gene variations in 16 unrelated cases. The most common type of variation was stopgain variants (56%). Immunoglobulin profile indicated reduced IgA, IgG, and IgM in 94%, 50%, and 20% cases, respectively. T cell lymphopenia was observed in 80% of cases among those investigated. Unusual presentations included an EBV-associated smooth muscle tumour located in the liver in one case and Hyper IgM syndrome-like presentation in two cases. Increased immunosenescence was observed in T-cell subsets (CD4+CD57+ and CD8+CD57+). T-cell receptor excision circles (TRECs) were reduced in 3/8 (37.50%) cases.

Virus in the throat; Man on the floor Syncopal episodes in a man with Covid-19

Even though infection with SARS-CoV-2 presents primarily with respiratory symptoms, unusual clinical manifestations have also been reported during the current pandemic. In May 2020, a middle-aged man presented to us with three episodes of impaired consciousness, which clinically appeared to be syncopal episodes. Patient had history of a single episode of mild fever 6 days prior to presentation, not accompanied by any respiratory symptoms. As a routine, swab for SARS-CoV-2 was sent and he tested positive. Holter recording was able to record sinus bradycardia followed by junctional escape during one such episode. Patient was managed symptomatically and there was no further recurrence of syncope.

POS-796 Cutaneous leishmaniasis in a kidney transplant patient: a case report

Leishmaniasis is an opportunistic infection that can be identified in post renal transplantation. Sometimes, it gives unusual clinical manifestations. Most published cases of leishmaniasis in kidney transplant patients concern the visceral form. Cutaneous leishmaniasis is rare.

Acneiform eruption during peficitinib treatment

Drug eruption is one of the triggers to cause allergic cutaneous immune reactions to medications. On the contrary, unusual skin clinical manifestation due to medications sometimes is observed by novel medications, which help to get a better understanding of the factor-mediated skin physiological function. Herein, we report a case of acneiform eruption following a JAK inhibitor, peficitinib.

EXPANDED DENGUE SYNDROME

ABSTRACTDengue viral infection (DVI) is a debilitating arthropod-borne disease that has been rapidly spread in several regions of the world in recent years. The spectrum of disease varies from mild self-limiting illness to dengue fever (DF) to more severe and fulminating forms, i.e., dengue hemorrhagic fever (DHF), dengue shock syndrome (DSS),and expanded dengue syndrome (EDS). The pathogenesis of EDS is not clear amid lack of studies on animal models. In the absence of in vitro experiments, disease spectrum is difficult to be elucidated and mimicked for humans.Recent advances on research on atypical complications of EDS demonstrate the involvement of other major organs such as the kidney, lung, heart, and central nervous system. Histopathological findings demonstrate the presence of hemorrhage, edema, and inflammatory infiltrates in these organs.The spectrum of Dengue viral infection varies from mild self-limiting illness to dengue fever to more severe and fulminating forms, i.e., dengue hemorrhagic fever, dengue shock syndrome, and expanded dengue syndrome. Apart from the classical presentation, dengue infection can result in a myriad of unusual clinical manifestations, which are grouped under the title expanded dengue syndrome. These findings urge more focused and comprehensive investigations to explore such relationships so that high-risk patients could be identified immediately during their presentation to the hospitals.Keywords: Expanded dengue syndrome, Pathogenesis, Organ-specific manifestation