Search Results (14)

Tuberculosis (TB) is an ancient and re-emerging granulomatous infectious disease that continues to challenge public health. Early diagnosis and prompt effective treatment are crucial for preventing disease progression and reducing both morbidity and mortality. These steps play a vital role in infection control and in lowering death rates at both individual and population levels. Although diagnostic methods have improved sufficiently in recent decades, TB can still present with ambiguous laboratory and imaging features. This ambiguity can lead to diagnostic pitfalls and potentially disastrous outcomes due to delayed diagnosis. In this article, we present a case of TB that was difficult to diagnose. The disease had invaded the mediastinum, right atrium, right coronary artery, and inferior vena cava (IVC), resulting in Budd–Chiari syndrome. This rare presentation created clinical, laboratory, and radiological confusion, resulting in a diagnostic dilemma that ultimately led to open cardiac surgery. The patient initially presented with progressive shortness of breath on exertion and fatigue, which suggested possible heart disease. This suspicion was reinforced by computed tomography (CT) imaging, which showed infiltrative mass lesions predominantly in the right side of the heart, invading the right coronary artery and IVC, with imaging features mimicking angiosarcoma. Although laboratory findings revealed an exudative effusion with lymphocyte predominance and elevated adenosine deaminase (ADA), the Gram stain was negative for bacteria, and an acid-fast bacilli (AFB) smear was also negative. These findings contributed to diagnostic uncertainty and delayed the confirmation of TB. Open surgery with excisional biopsy and histopathological analysis ultimately confirmed TB. We conclude that TB should not be ruled out solely based on negative Mycobacterium bacteria in pericardial effusion or AFB smear. TB can mimic aggressive tumors such as angiosarcoma or lymphoma with invasion of the surrounding tissues and blood vessels. Awareness of the clinical presentation, imaging findings, and potential diagnostic pitfalls of TB is essential, especially in endemic regions. Full article

Introduction: Spotted fever group (SFG) rickettsioses are tick-transmitted infections caused by Gram-negative, obligately intracellular bacteria in the genus Rickettsia. They present as an acute undifferentiated febrile illness, and they are often accompanied by rash and/or eschar. Although the rash of SFG rickettsioses usually consists of macules and papules, some, like in Rickettsia parkeri rickettsiosis, can also manifest with papulovesicular or pustular lesions. Case: We herein present a case of SFG rickettsiosis, due to R. parkeri, that masqueraded as Sweet syndrome (the prototype neutrophilic dermatosis) after the initial results of a shave biopsy. Further investigation of the biopsy specimen by immunohistochemical and PCR analysis would eventually confirm SFG rickettsiosis, with R. parkeri being detected by real-time PCR. Discussion:Rickettsia parkeri is transmitted by the Gulf Coast tick (Amblyomma maculatum) and is an increasingly recognized cause of SFG rickettsiosis in the United States. Rickettsia parkeri should be considered in those with an acute undifferentiated febrile illness with lesions that are pustular or papulovesicular, as prompt recognition and empirical administration of doxycycline results in the rapid resolution of symptoms. Full article

Background and Objectives: Uveitis-masked syndromes or masquerade syndromes (UMSs) are a group of ocular conditions with several systemic underlying causes, malignant or nonmalignant, that mimic the inflammatory status of the uvea. They are often difficult to detect and diagnose with traditional techniques, such as ophthalmic exams. Ocular B (bidimensional)-ultrasound (OBU) is a non-invasive, repeatable, rapid ultrasound method effective in indirect signs that lead back to systemic diseases. It is comparable in effectiveness with other imaging tools. The cause of UMSs can often be serious, and therefore early diagnosis and prompt treatment are critical. This study aimed to identify the sonographic signs of these forms, which can help physicians discover the cause underlying UMS. Materials and Methods: This was a consecutive, retrospective, nonrandomized study. This study was conducted at the University Hospital Polyclinic of Bari, Italy, from January 2022 to December 2024. A total of 186 patients were included, from 10 to 85 years old. They all underwent B-scan ultrasonography (Quantel Medical ABSolu Ocular Ultrasound). Results: All patients reported blurred vision, which could be accompanied by visual reduction (<20/40, Snellen charts), photophobia, floaters, flashes, proptosis, and redness. In all cases, we noted peculiar ultrasonographic signs, which allowed us to discriminate the underlying systemic diagnosis, such as vitreous corpuscles, choroid thickening, and primitive or metastatic solid tumors. Finally, we identified different diseases, such as primary intraocular lymphoma (PIOL), other lymphoproliferative conditions, orbital plasmacytoma, uveal melanoma, metastasis, endogenous endophthalmitis, retinal detachment, central serous retinopathy, metallic foreign bodies, ocular amyloidosis, and drug-induced UMSs. The sensitivity and specificity of ocular ultrasound compared to multimodal ocular imaging in UMSs were as follows: for primary intraocular lymphoma (PIOL) and other lymphoproliferative conditions, 0.98 (95% CI, 0.80–1) and 0.68 (90% CI, 0.40–0.92), respectively; for orbital plasmacytoma, 0.64 (92% CI, 0.52–0.86) and 0.66 (93% CI, 0.48–0.89), respectively; uveal melanoma, 1.00 (98% CI, 0.88–1.00) and 0.98 (95% CI, 0.86–0.98), respectively; metastasis, 0.75 (95% CI, 0.53–0.85) and 0.85 (95% CI, 0.48–0.98), respectively; endogenous endophthalmitis, 1.00 (95% CI, 0.50–1.00) and 0.83 (95% CI, 0.48–0.98), respectively; retinal detachment, both were 1.00 (95% CI, 0.87–1.00 and 0.84–0.97, respectively); central serous retinopathy, 0.60 (80% CI, 0.41–0.88) and 0.85 (95% CI, 0.52–0.98), respectively; metallic foreign bodies, 1.00 (95% CI, 0.78–1.00) and 0.99 (95% CI, 0.99–1.00), respectively; ocular amyloidosis, 0.77 (82% CI, 0.52–0.90) and 0.83 (80% CI, 0.49–0.88), respectively; and drug-induced UMSs, 0.64 (95% CI, 0.49–0.88) and 0.85 (95% CI, 0.52–0.98), respectively. Conclusions: Diagnosing UMS accurately can be quite challenging, and many of its different types frequently go undetected. This complexity in identification often leads to underdiagnosis, meaning it is essential to improve awareness and understanding of the condition in order to achieve better recognition and treatment. Early detection of these forms is imperative. The use of OBU can help diagnose indirect signs of these forms early and treat them promptly. It compares well with other diagnostic imaging techniques, such as MRI, but this does not mean that it replaces them; it can offer added value in multimodal imaging. Full article

Treatment with CCR-4 antagonists has been shown to be protective against the development of invasive pulmonary aspergillosis in animal models. Herein, we present a case of fatal invasive pulmonary aspergillosis in a patient receiving Mogamulizumab. A 64-year-old man with refractory mycosis fungoides was found to have diffuse bilateral pulmonary nodules during a chest CT in June 2022. Bronchoalveolar lavage (BAL) fungal and bacterial cultures and galactomannan were negative, as well as serum beta-glucan and galactomannan. Histology showed a lymphoid infiltrate with a negative fungal stain, so a presumptive diagnosis of lymphoma infiltration was made, and the patient started the CCR-4 antagonist Mogamulizumab treatment in August 2022. He had no symptoms until November when he presented to the hematology clinic reporting dyspnea. He had neutrophilic leukocytosis (18.610 cells/µL), his c-reactive protein was 27 mg/dL, and his skin lesions from mycosis fungoides were just starting to improve. A CT scan showed large diffuse bilateral severely necrotic cavitated lesions with thick walls and apparently synchronous evolution. Beta-glucan was 31 pg/mL (wako method), while serum galactomannan 3.6. BAL was positive for Aspergillus fumigatus culture and galactomannan. Patient started voriconazole but, despite being in a stable condition, he suddenly died after two days. Discussion: Paradoxically, worsening of the chronic pulmonary aspergillosis has been reported after nivolumab treatment, and immune reconstitution syndromes are usually seen during neutrophil recovery after intensive chemotherapy. Our patient already presented indolent lung lesions from 5 months before and he remained completely asymptomatic until the aspergillosis diagnosis when he quickly passed away. Even if a progression of the lesions was expected in 5 months, this case had an atypical presentation. During the 5-month period, he had no pulmonary symptoms, and his c-reactive protein was negative. Furthermore, in the setting of the natural progression of subacute/chronic aspergillosis, a different radiological picture was expected with a less severe and probably asynchronous evolution. We think that the immune restoration associated with Mogamulizumab (also supported by the concurrent clinical response of the skin lesions) could have been detrimental in this case, exacerbating a catastrophic immune response or alternatively masquerading the clinical progression of aspergillosis. Clinicians should be aware of immune reconstitution syndromes possibly leading to fatal outcomes in immunocompromised patients starting CCR-4 antagonists. Full article

Cramp–fasciculation syndrome (CFS) is a rare and benign neuromuscular disorder that may initially masquerade as motor neuron disease/amyotrophic lateral sclerosis. While CFS may have a familial disposition, we report on cases associated with high consumption of popular food items. One set of patients reversibly experienced acute onset of headache, flushing, muscle stiffness and fasciculations following the consumption of umami-flavored food containing a large concentration of monosodium glutamate. A second group of patients consuming food derived from lupin seed developed acute cholinergic toxicity, CFS, and, with chronic intake, significant, self-limiting, but incompletely reversible upper and lower motor neuron deficits. While these cases may improve our knowledge about the possible causes of CFS, our series also demonstrates that excessive consumption of some popular foods is not harmless. This warrants further research on their safety at all stages of human development from a neurological point of view. Full article

Fundus autofluorescence (FAF) is a prompt and non-invasive imaging modality helpful in detecting pathological abnormalities within the retina and the choroid. This narrative review and case series provides an overview on the current application of FAF in posterior and panuveitis. The literature was reviewed for articles on lesion characteristics on FAF of specific posterior and panuveitis entities as well as benefits and limitations of FAF for diagnosing and monitoring disease. FAF characteristics are described for non-infectious and infectious uveitis forms as well as masquerade syndromes. Dependent on the uveitis entity, FAF is of diagnostic value in detecting disease and following the clinical course. Currently available FAF modalities which differ in excitation wavelengths can provide different pathological insights depending on disease entity and activity. Further studies on the comparison of FAF modalities and their individual value for uveitis diagnosis and monitoring are warranted. Full article

X-linked retinoschisis (XLRS) shows features also seen in patients with uveitis and is recognized as an uveitis masquerade syndrome. This retrospective study aimed to describe characteristics of XLRS patients with an initial uveitis diagnosis and to contrast these to patients with an initial XLRS diagnosis. Patients referred to a uveitis clinic, which turned out to have XLRS (n = 4), and patients referred to a clinic for inherited retinal diseases (n = 18) were included. All patients underwent comprehensive ophthalmic examinations, including retinal imaging with fundus photography, ultra-widefield fundus imaging, and optical coherence tomography (OCT). In patients with an initial diagnosis of uveitis, a macular cystoid schisis was always interpreted as an inflammatory macular edema; vitreous hemorrhages were commonly interpreted as intraocular inflammation. Patients with an initial diagnosis of XLRS rarely (2/18; p = 0.02) showed vitreous hemorrhages. No additional demographic, anamnestic, and anatomical differences were found. An increased awareness of XLRS as a uveitis masquerade syndrome may facilitate early diagnosis and may prevent unnecessary therapies. Full article

(1) Background: To determine the diagnostic value of vitreous cytology in patients with vitreoretinal lymphoma (VRL) and evaluate its diagnostic accuracy relative to that of other diagnostic tests. (2) Methods: In total, 38 eyes from 38 patients with VRL who underwent diagnostic vitrectomy and were followed up for at least 6 months were analyzed. The clinical manifestations and VRL diagnostic rates for all diagnostic tests were determined. (3) Results: The presence of vitreous cells/opacity was the most common ophthalmic finding (97.4%), followed by sub-retinal pigment epithelial infiltration (65.8%) and retinal hemorrhage (21.1%). The VRL diagnostic rates were 89.3% for interleukin (IL)-10 levels > 50 pg/mL; 82.1% for IL-10/IL-6 ratios > 1; 60.0% and 63.3% for immunoglobulin heavy chain and kappa light chain clonality assays, respectively; and 44.4% for vitreous cytology. The VRL diagnostic rate for vitreous cytology was significantly lower in the steroid pretreatment group than in the non-steroid pretreatment group (p = 0.007). (4) Conclusions: The VRL detection rate for vitreous cytology was lower than that for the other tests, especially in patients who received steroid pretreatment. These findings suggest that even if vitreous cytology findings are negative, other tests and characteristic fundus findings should be evaluated to confirm VRL diagnosis. Full article

Tuberculosis is considered one of the great masqueraders alongside syphilis and vasculitis. Pott disease is recognized as a classic manifestation of tuberculosis, yet it stands as a rare infectious syndrome in regions with low tuberculosis disease burden. To illustrate the challenges of diagnosing Pott disease in these settings, we report two cases and offer a brief overview of management recommendations for vertebral osteomyelitis caused by Mycobacterium tuberculosis. Case one concerns an 81-year-old man with a remote history of incarceration who presented with altered mental status and new pleural effusions. Case two is a 49-year-old man with well-controlled HIV who was transferred to our institution after being found to have extensive destruction of L3–L5 vertebrae and bilateral iliopsoas abscesses on outpatient imaging. These stand as illustrative examples of low and high suspicion for tuberculosis, respectively, and both cases required complex diagnostic and management decisions. Full article

Irritable bowel syndrome (IBS), with its key features of abdominal pain and disturbed bowel habit, is thought by both patients and clinicians to be strongly influenced by diet. However, the complexities of diet have made identifying specific food intolerances difficult. Eating disorders can masquerade as IBS and may need specialist treatment. While typical food allergy is readily distinguished from IBS, the mechanisms of gut-specific adverse reactions to food are only just being defined. These may include gut-specific mast cell activation as well as non-specific activation by stressors and certain foods. Visceral hypersensitivity, in some cases mediated by mast cell activation, plays a key part in making otherwise innocuous gut stimuli painful. Rapidly fermented poorly absorbed carbohydrates produce gaseous distension as well as short-chain fatty acids and lowering of colonic pH which may cause symptoms in IBS patients. Limiting intake of these in low FODMAP and related diets has proven popular and apparently successful in many patients. Existing diet, colonic microbiota and their metabolic products may be helpful in predicting who will respond. Wheat intolerance may reflect the fact that wheat is often a major source of dietary FODMAPs. It may also be either a forme fruste of coeliac disease or non-specific immune activation. Wheat exclusion can be successful in some of these patients. More research is needed to fully understand the mechanisms of food intolerances and how to best ameliorate them in a personalised medicine approach to diet in IBS. Full article

Prostate cancer can masquerade as just normocytic anemia and thrombocytopenia, thrombotic thrombocytopenic purpura (TTP), hemolytic uremic syndrome (HUS), or tumor lysis syndrome (TLS). We are reporting an intriguing case of metastatic prostate cancer which remained undiagnosed until the patient showed signs of tumor lysis syndrome (TLS), leading to urate nephropathy requiring urgent hemodialysis. Tumor lysis syndrome is an oncological emergency but an exceedingly rare complication in non-hematological malignancies, including prostate cancer. It is challenging to recognize features of TLS in a case such as this with an unknown diagnosis. In the case of an established diagnosis of malignancy, however, checking baseline renal function, uric acid, lactate dehydrogenase (LDH), potassium, and phosphate to monitor for TLS as well as considering urate lowering therapy can help prevent adverse outcomes. Full article

Intraocular inflammation can hide a variety of eye pathologies. In 33% of cases, to obtain a correct diagnosis, investigation of the intraocular sample is necessary. The combined analyses of the intraocular biopsy, using immuno-pathology and molecular biology, point to resolve the diagnostic dilemmas in those cases where history, clinical tests, and ophthalmic and systemic examinations are inconclusive. In such situations, the teamwork between the ophthalmologist and the molecular pathologist is critically important to discriminate between autoimmune diseases, infections, and intraocular tumors, including lymphoma and metastases, especially in those clinical settings known as masquerade syndromes. This comprehensive review focuses on the diagnostic use of intraocular biopsy and highlights its potential to enhance research in the field. It describes the different surgical techniques of obtaining the biopsy, risks, and complication rates. The review is organized according to the anatomical site of the sample: I. anterior chamber containing aqueous humor, II. iris and ciliary body, III. vitreous, and IV. choroid and retina. We have excluded the literature concerning biopsy for choroidal melanoma and retinoblastoma, as this is a specialized area more relevant to ocular oncology. Full article

Anterior sacral meningocele is a very rare clinical entity characterized by herniation of a meningeal sac through a sacrococcygeal defect. We report a case of a 20-year old female with Marfan syndrome who presented with abdominal distention that was misdiagnosed as an ovarian cyst on pelvic ultrasound. Pelvic magnetic resonance (MR) imaging showed large, well-defined multiloculated intrasacral and presacral cysts communicating via two separate broad necks and extending through defects in anterior aspect of sacral vertebrae. This case emphasizes that anterior sacral meningocele should be considered in the differential diagnosis of cases with pelvic cysts particularly in patients with underlying connective tissue disorders. Because severe neurologic complications or even death may occur without proper preoperative planning in such cases, MR imaging should always be performed for evaluation and characterization of pelvis cystic lesions. Full article

Primary vitreoretinal lymphoma (PVRL) or primary intraocular lymphoma, a subtype of primary central nervous system lymphoma, often masquerades as uveitis. The diagnosis of PVRL requires identification of lymphoma cells inside the eye, which is often challenging due to the frequent necrosis and admixing of PVRL cells with reactive lymphocytes. Therefore, detection of immunoglobulin heavy chain (IgH) and T-cell receptor (TCR) gene rearrangements provide molecular diagnosis of B- and T-cell lymphoma, respectively. We retrospectively evaluated 208 cases with a clinical diagnosis of masquerade syndrome from 1998 to 2010. In 200 cases with molecular analyses using microdissection and polymerase chain reaction, we found that 110 cases had IgH gene rearrangement, 5 cases had TCR gene rearrangement, and 85 cases were negative for these two gene arrangements. The molecular data corroborated the cytopathological diagnoses of PVRL and uveitis in the majority of cases. Cytokine above the detected levels in the specimens were also measured in 80 of the 208 cases. A ratio of vitreous IL-10 to IL-6 greater than 1, suggesting PVRL, was found in 56/80 cases; 53/56 had the correct diagnosis. A ratio less than 1, suggesting uveitis, was found in 24/80 cases; 17/24 correctly confirmed the diagnosis. Moreover, the molecular data corresponded well with the clinical course of the diseases. The sensitivity and specificity of these molecular biomarkers for the diagnosis of PVRL are higher than 95%. Full article