Case-based Review Research Articles

Vision loss in giant cell arteritis: case-based review

Prompt initiation of pulse glucocorticoid treatment is recommended in case of visual symptoms and suspected or proven giant cell arteritis (GCA). Pulse treatment in most cases prevents involvement of an initially unaffected fellow eye. We present the case of a biopsy-proven GCA in a 79-year-old man, complicated by sequential bilateral blindness. Initial unilateral vision loss was treated by 1g methylprednisolone intravenously for 3days, followed by 1g/kg prednisone daily. Despite treatment, the second eye went completely blind 11days after the initial vision loss. We performed a systematic search on Medline and Scopus aiming at identifying all cases of GCA complicated with loss of vision in a previously unaffected eye under pulse treatment for initially monocular vision loss. We identified 11 articles reporting 21 patients that met our inclusion criteria. Contralateral vision loss occurred 1-12days following treatment initiation, with a median of 2days. Treatment initiation was delayed up to 8days since the initial vision loss, with a median delay of 2days. Anterior ischemic optic neuropathy was the dominant mechanism of vision loss. Sequential involvement of the fellow eye in case of unilateral vision loss in GCA is rare. With 12-day interval being the longest reported, we conclude that even though the first 2days are the most critical for the visual outcome, blindness in the initially unaffected eye may rarely occur later. Nonetheless, immediate initiation of pulse treatment remains of vital importance to preserve vision in the contralateral eye.

Rapid Response of Refractory Systemic Lupus Erythematosus Skin Manifestations to Anifrolumab-A Case-Based Review of Clinical Trial Data Suggesting a Domain-Based Therapeutic Approach.

Systemic lupus erythematosus (SLE) is a clinically heterogeneous autoimmune disease, and organ manifestations, such as lupus nephritis (LN) or skin disease, may be refractory to standard treatment. Therefore, new agents are required to allow for a more personalized therapeutic approach. Recently, several new therapies have been approved internationally, including voclosporine for LN and anifrolumab for moderately to severely active SLE. Here, we report a case of SLE with a predominant and refractory cutaneous manifestation despite combination treatment with glucocorticoids, hydroxychloroquine, mycophenolate mofetil, and belimumab, which had been present for more than 12 months. Belimumab was switched to anifrolumab, and the patient responded quickly after two infusions (eight weeks) with a reduction in the Cutaneous Lupus Assessment and Severity Index (CLASI) from 17 to 7. In addition, we review the available clinical trial data for anifrolumab with a focus on cutaneous outcomes. Based on phase II and III clinical trials investigating the intravenous administration, a consistent CLASI improvement was observed at 12 weeks. Interestingly, in a phase II trial of subcutaneous anifrolumab application, CLASI response was not different from placebo at 12 weeks but numerically different at 24 and 52 weeks, respectively. Thus, anifrolumab emerges as an attractive new therapeutic option suggesting a possible domain-based approach.

Rare presentation of multiple thromboses in Erdheim–Chester disease: a case-based review

BackgroundECD is a rare non-Langerhans cell histiocytosis with diverse and heterogeneous clinical manifestations, ranging from single-lesion forms to multi-system involvement, including slowly progressing unifocal forms to rapidly evolving life-threatening disease.Case presentationA female patient presented with a 2-month history of fever. Imaging revealed multiple thromboses, bone destruction, an abnormal pituitary stalk, and clinical manifestations of diabetes insipidus. Excisional biopsy of a tibial lesion was sent for microscopic examination, and subsequent immunohistochemical testing was positive for expression of CD68 and CD163, and negative for expression of the immune markers CD1a, S100, and langerin. This confirmed the diagnosis of ECD. Treatment with methylprednisolone to inhibit the immune inflammatory response along with anti-cytokine therapy with an interleukin-6 antagonist resulted in satisfactory disease control.ConclusionWe report a rare case of multiple thromboses, embolism, and multiple organ involvement as the main presentation of ECD, suggesting that ECD should be considered in patients presenting with multiple thromboses associated with multisystem damage. We successfully treated our patient with glucocorticoids and interleukin-6 antagonist. This patient’s response to treatment suggests that hormone therapy and cytokine/chemokine therapy may be a potential novel treatment for patients with ECD without gene mutations.

The Cecum Revisited: A Multimodality Imaging Case-based Review of Common and Uncommon Cecal Diseases

A wide range of conditions involving the cecum may be found in patients undergoing imaging work-up for conditions as various as right lower pain, diarrhea, fever, and weight loss. The cecum may be the only area of involvement by a particular disease. However, it may also be affected by a more diffuse process of the gastrointestinal tract or even as part of systemic diseases. Imaging provides an excellent evaluation of the cecal region and its surrounding planes, with an impactful clinical application in multiple scenarios. While typical features in many situations allow establishing a confident diagnosis, there are also challenging entities with overlapping features, making it critical for the radiologist awareness of the whole gamut of these conditions, as well as the ability to correlate imaging findings with other clinical data. Additional challenges to the imaging evaluation include anatomical variations of the cecal position and the absence of proper colonic distention in some cases. This article aims to revisit the spectrum of cross-sectional imaging features of common and uncommon pathologies involving the cecum, ranging from inflammatory and infectious to vascular and neoplastic ones.

Ankylosing spondylitis on unidentified individual from early modern times found in reformed church (Silická Brezová, Slovakia): a case-based review.

The grave situated in the central part of the reformed church in Silická Brezová in Slovakia contained the human skeletal remains of one individual. The aim of this study was to confirm the presence of ankylosing spondylitis on these skeletal remains. Determine the sex, age at death, stature, and ancestry of the individual by anthropological methods, and also record and identify other pathological manifestations of diseases. A macroscopic examination has been carried out, with the analysis of the palaeopathological conditions of the remains, and subsequently an X-ray and CT completed analysis. The skeleton belonged to a male of European origin, aged between 45 and 60years at the time of death. Stature calculated from the maximal length of his femur was 163.12 ± 3.48cm. Pathological features were identified on the many bones. Ankylosis affected almost the whole spinal cord, including the sacroiliac joints. The skeleton also presented the manifestation of many entheseal changes. Presence of the ankylosing spondylitis was confirmed by a combination of standard anthropological methods and modern diagnostic methods (X-ray and CT analysis). It is a specific disease with a prevalence between 0.1 and 1% worldwide. There is a potential for further genetic research to determine the degree of genetic relatedness with an individual living in this village who has been diagnosed with the same disease.

Anti-MDA5 dermatomyositis after COVID-19 vaccination: a case-based review.

Anti-MDA5 (Melanoma differentiation-associated protein 5) myositis is a rare subtype of dermatomyositis (DM) characterized by distinct ulcerative, erythematous cutaneous lesions and a high risk of rapidly progressive interstitial lung disease (RP-ILD). It has been shown that SARS-CoV-2 (COVID-19) replicates rapidly in lung and skin epithelial cells, which is sensed by the cytosolic RNA-sensor MDA5. MDA5 then triggers type 1 interferon (IFN) production, and thus downstream inflammatory mediators (EMBO J 40(15):e107826, 2021); (J Virol, 2021, https://doi.org/10.1128/JVI.00862-21); (Cell Rep 34(2):108628, 2021); (Sci Rep 11(1):13638, 2021); (Trends Microbiol 27(1):75–85, 2019). It has also been shown that MDA5 is triggered by the mRNA COVID-19 vaccine with resultant activated dendritic cells (Nat Rev Immunol 21(4):195–197, 2021). Our literature review identified one reported case of MDA5-DM from the COVID-19 vaccine (Chest J, 2021, https://doi.org/10.1016/j.chest.2021.07.646). We present six additional cases of MDA5-DM that developed shortly after the administration of different kinds of COVID-19 vaccines. A review of other similar cases of myositis developing from the COVID-19 vaccine was also done. We aim to explore and discuss the evidence around recent speculations of a possible relation of MDA5-DM to COVID-19 infection and vaccine. The importance of vaccination during a worldwide pandemic should be maintained and our findings are not intended to discourage individuals from receiving the COVID-19 vaccine.

Behçet's disease with intestinal involvement: case-based review.

Behçet's disease (BD) is a rare (especially in East Europe, Ukraine) systemic vasculitis of blood vessels of varying calibers throughout the body that affects various organs. The variability of the clinical features requires the involvement of doctors of different specialties in the management of such patients. The work was aimed to conduct a literature review of the intestine involvement and skin lesions in BD based on the clinical case with bloody diarrhea at the onset, and to assess the frequency of development of various clinical syndromes in intestinal BD. This is an attempt at describing a manifestation of BD with colitis and to emphasize the necessary revision of BD diagnostic criteria with special attention to early manifestations of BD with gastrointestinal tract involvement.

Prevention of Serious Complications during Endoscopic Ultrasound-Guided Biliary Drainage: A Case-Based Technical Review

AbstractEndoscopic ultrasound-guided biliary drainage (EUS-BD) has a potential risk of clinically significant adverse events including fatal complications. Learning from complications improves the results from interventional procedures especially the high-risk procedure like EUS-BD. The various complications that have been reported following EUS-BD include bile leak, bleeding, cholangitis, peritonitis, stent migration both internal and external as well as in the peritoneal cavity and fatal perforations. In this technical review, we discuss technical strategies to prevent serious adverse events during EUS-BD using a case based approach.

How to better identify and manage women with elevated breast cancer risk.

This case-based review details screening and management strategies that can maximize the care you provide to women at heightened risk.

Arterial Spin Labeling technique and clinical applications of the intracranial compartment in stroke and stroke mimics - A case-based review.

Magnetic resonance imaging perfusion (MRP) techniques can improve the selection of acute ischemic stroke patients for treatment by estimating the salvageable area of decreased perfusion, that is, penumbra. Arterial spin labeling (ASL) is a noncontrast MRP technique that is used to assess cerebral blood flow without the use of intravenous gadolinium contrast. Thus, ASL is of particular interest in stroke imaging. This article will review clinical applications of ASL in stroke such as assessment of the core infarct and penumbra, localization of the vascular occlusion, and collateral status. Given the nonspecific symptoms that patients can present with, differentiating between stroke and a stroke mimic is a diagnostic dilemma. ASL not only helps in differentiating stroke from stroke mimic but also can be used to specify the exact mimic when used in conjunction with the symptomatology and structural imaging. In addition to a case-based overview of clinical applications of the ASL in stroke and stroke mimics in this article, the more commonly used ASL labeling techniques as well as emerging ASL techniques, future developments, and limitations will be reviewed.

Best Practice Management of Patients With Chronic Obstructive Pulmonary Disease: A Case-Based Review

Chronic obstructive pulmonary disease (COPD) is associated with a high clinical and economic burden and is the fourth leading cause of death in the United States. The management of patients with COPD aims to minimize and control symptoms, prevent exacerbations, and improve quality of life. We provide an illustrated case study of a female patient with typical progression of COPD and describe the diagnosis, assessment, and management strategy, referring to the evidence seen in recent studies that supports the treatment decisions.

Cutaneous vasculitis following COVID-19 vaccination: a case-based review

The article's abstract is not available.

Management of Pheochromocytomas and Paragangliomas: A Case-Based Review of Clinical Aspects and Perspectives.

Paraganglioma and pheochromocytoma are rare medical conditions. Thus, there are still a small number of studies, clinical trials, and evidence-based data in this field. This makes clinical decisions more difficult. In this study, we present a case report enriched with a short review of available essential clinical data, indicating the need for constant metoxycatecholamine level observation and a proper diagnostic imaging approach, especially in terms of ongoing pandemics. Our research also provides a summary of the molecular background of these diseases, indicating their future role in clinical management. We analyzed the ClinicalTrials.gov dataset in order to show future perspectives. In this paper, the use of the PET-CT before MRI or CT is proposed in specific cases during diagnosis processes contrary to the guidelines. PET-CT may be as effective as standard procedures and may provide a faster diagnosis, which is important in periods with more difficult access to health care, such as during the COVID-19 pandemic.

Urgent and emergent breast lesions - A primer for the general radiologist, on-call resident and sonographer.

There are very few true breast emergencies. While infrequent, women do present to emergency departments or urgent care centres with breast-related concerns. In this case-based review, both common and uncommon urgent and emergent breast lesions are presented, emphasising ultrasound characteristics and imaging optimisation to improve accurate diagnosis and appropriate recommendations.

Focal lesionectomy as surgical treatment of epilepsy in patients with Sturge-Weber syndrome: a case-based systematic review and meta-analysis.

Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder presenting mostly with a facial port-wine stain and leptomeningeal angiomatosis. More than 85% of the patients are affected by epilepsy by the age of 2 years. Seizure and symptom control is the focus of SWS treatment, since no causal therapy exists yet. For pharmacologically intractable epilepsy, surgery is a treatment option. The aim of this systematic review and meta-analysis was to provide an overview of the literature regarding lesionectomy in SWS with a focus on seizure outcome, complications, and motor and cognitive development. The PubMed and Embase databases were searched using a systematic search strategy to identify studies on SWS from their inception until 2021. Two independent researchers assessed the studies for inclusion and quality. Outcome measures were seizure outcome, postoperative complications, and motor and cognitive development. Thereafter, a systematic review was conducted, and a meta-analysis was performed for all included cohort studies. Risk of bias was assessed using the Newcastle-Ottawa Scale. Forest plots have been generated for all outcomes; risk ratio was used for pooled outcomes. A p value < 0.05 was considered as statistically significant. After removal of duplicates, the authors screened 439 articles, of which 9 articles with 150 patients were included. Our case and 5 case reports and 4 retrospective cohort studies were included for systematic review. The latter 4 studies qualified for the meta-analysis. In these 4 articles, 144 patients received surgical treatment: 81 (56%) underwent focal lesionectomy and 63 (44%) hemispherectomy. Pooled outcome analysis for postoperative favorable seizure outcome showed a nonsignificant difference between lesionectomy and hemispherectomy (69.2% vs 87.3%; RR 0.73, 95% CI 0.50-1.08; t = -2.56, p = 0.08). Lesionectomy showed a significantly lower rate for developmental delay and postoperative hemiparesis in comparison with hemispherectomy (29.8% vs 76.3%; RR 0.41, 95% CI 0.28-0.59; z = -4.77, p < 0.0001 and 18.1% vs 100%; RR 0.11, 95% CI 0.06-0.21; z = -6.58, p < 0.0001, respectively). Based on the limited literature available, lesionectomy leads to a nonsignificant lower seizure control rate, while postoperative developmental or motor deficits are significantly lower compared with hemispherectomy. Therefore, focal lesionectomy remains a valid alternative to hemispherectomy in SWS with a clearly localized epileptogenic area; however, individual case-based decisions in a specialized multidisciplinary team are of paramount importance.

Is it a liver abscess or liver infarction? Diagnostic dilemma in a patient with systemic lupus erythematosus and antiphospholipid syndrome: a case-based mini review

Is it a liver abscess or liver infarction? Diagnostic dilemma in a patient with systemic lupus erythematosus and antiphospholipid syndrome: a case-based mini review

New-onset Systemic Lupus Erythematosus presenting with Macrophage Activation Syndrome and Diffuse Alveolar Hemorrhage: a case-based review

Macrophage activation syndrome is a form of secondary hemophagocytic lymphohistiocytosis in the setting of autoimmune diseases. It’s a rare, hyperinflammatory complication requiring prompt institution of therapy to prevent organ dysfunction and death. We report a young female presenting with macrophage activation syndrome with multiorgan failure and diffuse alveolar hemorrhage in the setting of inaugural systemic lupus erythematosus. The patient was successfully treated with steroids, plasma exchange and cyclophosphamide.

Chronic Tropheryma whipplei infection: an important differential diagnosis of refractory polyarthritis

Refractory arthritis is acommon problem in routine rheumatology practice, and can be adiagnostic challenge. In these cases, chronic Tropheryma whipplei (T.whipplei) infection is an important differential diagnosis that should be considered. Based on five clinical cases, this case-based review describes the diagnostic and therapeutic principles in the management of chronic T.whipplei infection. Whipple's disease is amultisystemic infectious disease caused by the bacterium T.whipplei. The disease typically manifests with arthralgia, weight loss and diarrhoea. Joint involvement often develops years before gastrointestinal symptoms occur. In addition to systemic manifestations ("classic Whipple's disease"), T.whipplei can also lead to localized joint infections without gastrointestinal involvement. Articular manifestations of systemic and localized T.whipplei infections are commonly misdiagnosed as a sign of various forms of autoimmmune arthritis. Whipple's disease and localized T.whipplei joint infection should be considered in the diagnostic work-up of refractory arthritis. Synovial fluid analysis by means of specific polymerase chain reaction-based testing for T.whipplei is diagnostically ground-breaking.

Granulomatous mastitis, erythema nodosum, and polyarthritis: a case report

BackgroundGranulomatous mastitis is a rare inflammatory disease of the breast, typically seen in woman of child-bearing age. No definitive etiology has been described. In rare instances, this condition has been reported to be associated with extramammary manifestations such as erythema nodosum and arthritis. We describe this rare condition in an adolescent female.Case presentationA 16-year-old, Hispanic female presented with right-sided painful breast swelling, polyarthritis, and erythema nodosum on bilateral shins and lower thighs. Physical examination was negative for lymphadenopathy and pulmonary, gastrointestinal, and cardiovascular findings. Ophthalmologic examination for uveitis and serologic tests for autoimmune diseases were negative. Diagnosis of idiopathic granulomatous mastitis was made by exclusion of other etiologies and conditions. Confirmation was made by histopathologic examination demonstrating noncaseating granuloma within breast lobules with neutrophils and microabscess formation. After wide local excision and a short course of trimethoprim–sulfamethoxazole, our patient was placed on naproxen and prednisone, the latter being tapered off over 3 months, with steady and complete resolution of all symptoms.ConclusionThis is the first reported case of idiopathic granulomatous mastitis in a pediatric patient who also had extramammary manifestations, including erythema nodosum and polyarthritis. In this case-based review, we summarize the phenotype, risk factors, prognosis, and treatment options of this rare condition, chiefly to make the readers cognizant of such a diagnostic possibility in similar clinical presentation in the future.

Kimura's disease successively affecting multiple body parts: a case-based literature review

BackgroundKimura’s disease is a rare, benign, chronic inflammatory disease that presents as painless, solid masses mainly affecting the deep subcutaneous areas of the head and neck, especially the salivary glands, parotid glands and nearby lymph nodes. It is characterized by elevated peripheral blood eosinophil and Immunoglobulin E (IgE) levels.Case presentationA 31-year-old Asian male presented with an orbital space-occupying lesion lasting for 1.5 years. Ten years prior, surgical excision of bilateral fossa cubitalis and groin masses was performed, and the pathological examination showed "lymphoproliferative disease". One year later, masses reappeared near the surgical sites; they grew slowly and shrank after glucocorticoid treatment. At this point, admission examinations showed in the peripheral blood an eosinophil proportion of 13.4%, a total IgE level of 26,900.00 IU/mL, prurigo present on the whole body, and multiple palpable masses near the bilateral fossa cubitalis and groin. The left eyeball was exophthalmic. The left elbow mass was excised, and the pathological examination confirmed Kimura’s disease. Oral glucocorticoid therapy is taken and tapering regularly. The eosinophil count returned to normal, the IgE level gradually decreased, the orbital space-occupying lesion and elbow and groin masses shrank significantly, and the whole-body skin prurigo disappeared. Currently, the patient has been in a stable condition for eighteen months.ConclusionOur case provides a novel insight that Kimura’s disease should be involved in the differential diagnosis of inflammatory lesion mass of orbit and also supports systemic regular glucocorticoid as a valuable therapy of such condition, but close follow-up and long-term observation are crucial.