Case-based Review Research Articles

Thromboprophylaxis in multiple myeloma: a case-based review with practical guidelines.

Venous thromboembolism (VTE) poses a significant challenge in the context of multiple myeloma, with an incidence of up to 10% in newly diagnosed patients and varying frequency in the relapsed/refractory setting. Accurate VTE risk assessment and personalized thromboprophylaxis strategies are important parts of supportive care in myeloma. There are three validated risk assessment models for prediction of VTE risk in newly diagnosed myeloma-SAVED, IMPEDE-VTE, and PRISM. In this review, we delve into the practical applications of VTE risk prediction models in the context of current therapies. By emphasizing the necessity of a tailored approach, we underscore the importance of considering patient-specific, disease-specific, and treatment-specific risk factors in each clinical scenario, and using that data to complement the output from risk assessment models. We also provide a summary of currently available data on VTE thromboprophylaxis in myeloma, and highlight specific situations where direct oral anticoagulants should be strongly considered. Our objective is to fill the critical gaps in VTE prophylaxis and management through the analysis of specific patient cases and provide a practical overview for clinicians.

Drug-induced lupus erythematosus in childhood: Case-based review.

Drug-induced lupus erythematosus (DILE) is the development of lupus-like syndrome following a drug exposure. DILE has been reported less frequently among children than adults. In this study, we present four children with DILE and similar published cases through a systematic literature review. We report four children (three girls and one boy) who developed DILE associated with the use of topiramate, doxycycline, etanercept, and ethosuximide. Three of them were positive for anti-histone antibodies. In all patients, the drug was discontinued and symptoms resolved completely. The literature review revealed 48 articles describing 61 children with DILE. In the evaluation of 65 patients (our 4 patients and 61 patients from the literature), the most frequently reported drugs associated with DILE were ethosuximide (n = 13) and minocycline (n = 12). Fever (n = 33), arthralgia (n = 31), rash (n = 30), and arthritis (n = 29) were the most common clinical manifestations. Antinuclear antibody (ANA) was positive in 93.5% of patients and anti-histone antibodies were detected in 72.2% of the patients. As for treatment, the responsible drug was discontinued in all patients, and corticosteroids were initiated in 53.3%. Improvement was achieved in 92.0% of patients. For children presenting with SLE features, proper drug history is crucial since DILE may be more frequent than anticipated. An association of the relevant drug with the symptoms, and resolution of symptoms on drug withdrawal provides evidence for the diagnosis of DILE.

Urinary bladder involvement in IgG4-related disease: A case-based review.

Immunoglobulin G4-related disease (IgG4-RD) is an immune-driven fibroinflammatory disease that presents as tumefactive lesions that not only commonly affects the pancreas, lacrimal and salivary glands, lung, liver and kidney but can also affect any organs. However, involvement of the urinary bladder in IgG4-RD is rarely reported. We describe a case of IgG4-RD involving the urinary bladder mimicking carcinoma and review the published literature-a 39-year-old male presented with complaints of dysuria, urgency and hesitancy. Ultrasound revealed a hyperechoic lesion protruding from the anterior of the urinary bladder wall with partial obstruction to bladder outflow, likely to be a pedunculated bladder mass with high suspicion for malignancy. A contrast-enhanced computed tomography abdomen showed a large irregular lobulated heterogeneously enhancing lesion involving the anteroinferior wall of the urinary bladder extending from mid-body up to the neck region with significant perivesical fat stranding and multiple ill-defined perivesical deposits along with hypodense soft tissue lesion in the perigastric region at the level of the body of the stomach. CT-guided perigastric and ultrasound-guided biopsy from the urinary bladder mass confirmed the diagnosis of IgG4-RD. The patient was treated with glucocorticoids. He is doing well after a 1-year follow-up without recurrence, and a repeat ultrasound showed a significant reduction in the size of the urinary bladder mass. The diagnosis of IgG4-RD should be considered in the differential diagnosis of a urinary bladder mass. High index of suspicion and prompt initiation of therapy are required to minimise residual damage and the need for surgical intervention.

Late-Presenting Eosinophilic Granulomatosis with Polyangiitis as Cause of Pulmonary Fibrosis: A Case-Based Review.

Eosinophilic granulomatosis with polyangiitis (eGPA) is a necrotising vasculitis of small and medium calibre vessels, which affects mostly patients in their fourth to sixth decade of life, and it is a very uncommon aetiology for pulmonary fibrosis. A Hispanic 72-year-old female patient presents with a history of lower extremities pain, paraesthesia, oedema, and occasional macroscopic haematuria. During her hospitalisation, the patient presents, and images showed findings compatible with pulmonary fibrosis and alveolar haemorrhage, which require a biopsy, establishing the diagnosis of an eGPA. eGPA is a low-incidence autoimmune vasculitis, with a high number of phenotypes which explain the broad clinical spectrum, but recent advances has helped to understand the physiopathology and its link with other conditions like pulmonary fibrosis. Early diagnosis and management of this condition is mandatory because it is the only factor that change the outcome of the patients.

Hemichorea as the First and Sole Manifestation in Lupus: Case-Based Review.

Hemichorea as the First and Sole Manifestation in Lupus: Case-Based Review.

Questioning the Relevance of Normal White Blood Cell Count under 10,000 Cells per Microlitre in Millard Criteria as an Absolutely Required Parameter for Cleft Lip Repair Surgeries: A Case-Based Literature Review

Leukocytosis, defined as an elevated white blood cell count, has long been regarded as a crucial indicator of inflammation or infection in surgical procedures. In the context of cleft lip surgeries, normal white blood cell count has often been considered an absolute requirement for proceeding with the procedure, as it is believed to signal the presence of a potentially infectious or inflammatory state. Therefore, leukocytosis is thought to be a strong precautionary factor. However, recent evidence challenges this long-held belief, suggesting that elevated white blood cell counts may not necessarily be indicative of adverse outcomes in cleft lip surgeries. To explore this notion, we conducted a comprehensive literature review focusing on two case studies involving unilateral cleft lip patients with presurgical white blood cell counts exceeding 10,000 per microlitre. Both cases underwent successful cleft lip repair and demonstrated excellent post-surgical outcomes without any signs of inflammation or infection. Both cleft lip repair surgeries results showed no complications, and the patient exhibited optimal wound healing and an aesthetically pleasing outcome at the follow-up appointments. These cases challenge the assumption that normal white blood cell count is an absolute requirement for cleft lip surgeries and call for a reconsideration of its significance in predicting post-surgical outcomes. While leukocytosis is an essential parameter to identify potential infectious or inflammatory states, our findings suggest that it should not be solely relied upon in isolation when assessing the suitability for cleft lip surgery and predicting the adverse outcomes in cleft lip surgeries. Further studies are warranted to establish a more nuanced understanding of leukocytosis in the context of cleft lip surgeries, including its association with other clinical parameters and potential alternatives for evaluating surgical candidacy and predicting the adverse outcomes in cleft lip surgeries.

Risk of multiple sclerosis in patients with psoriasis receiving anti-IL-17 agents: A case-based review.

Biologics approved for psoriasis exhibit favorable safety profiles, and serious adverse events have rarely been reported. In this report, we present the case of a patient treated with ixekizumab, an anti-interleukin (IL)-17 agent, who 8 months later developed multiple sclerosis (MS). We also review the available literature regarding the use of anti-IL-17 agents in the context of psoriasis and pre-existing or new-onset demyelination. Eight case reports were evaluated as relevant and are presented in our report. In most of the cases secukinumab or ixekizumab administration adequately controlled both skin and pre-existing neurological clinical manifestations. However, there has been a report of MS exacerbation under secukinumab treatment and the occurrence of myelitis in a patient receiving ixekizumab. While the anti-IL-17-biologic-mediated induction of inflammatory events in the central nervous system has not been proven and a causal relationship is lacking, such a probability should be considered in extremely rare cases.

ST3GAL3 deficiency with autistic behavior: First description of frameshift variant and literature review

ST3GAL-III deficiency is an extremely rare genetic disease caused by pathogenic variants in the ST3GAL3 gene. There are two extremely rare disorders caused by homozygous mutations in the ST3GAL3 gene: developmental and epileptic encephalopathy 15 (MIM#615006) and intellectual developmental disorder, autosomal recessive 12 (MIM#611089). To date, no homozygous frameshift mutation in the ST3GAL3 gene has been identified that results in ST3GAL-III deficiency. The present study describes the first pathogenic homozygous frameshift variant (NM_174964.4:c.1113dup, p. Glu372ArgfsTer14) in the ST3GAL3 gene, which was identified by Whole-Exome sequencing and confirmed by Sanger sequencing. This novel mutation is responsible for developmental delay, speech impairment, epilepsy, hypotonia, intellectual disability, and behavioral issues in the proband. Eventually, we provide a case-based review of the clinical features associated with ST3GAL3 mutation. We compared our findings to previously reported cases, suggesting that developmental delay, speech impairment and intellectual disability are the main clinical features in ST3GAL3 deficient patients. Further studies would be beneficial to determine which genetic variants cause intellectual and behavioral problems, since they are highly diverse and poorly understood.

Correlation between choroid plexus carcinoma and Li-Fraumeni syndrome: implications of TP53 mutations and management strategies-a case-based narrative review.

Choroid plexus carcinomas (CPCs) are rare, aggressive grade 3 tumors of the central nervous system associated with Li-Fraumeni syndrome (LFS) in a notable percentage of cases due to TP53 germline mutations. Understanding the correlation between CPCs and LFS is crucial for tailored management strategies. However, distinguishing CPCs from benign choroid plexus papillomas (CPPs) remains challenging, relying largely on histologic features. This study aimed to explore the association between CPCs and LFS, emphasizing the impact of TP53 mutations on diagnosis, treatment, and clinical outcomes. Scientific databases such as PubMed, Scopus, and Web of Science were systematically searched up to January 2024 using keywords related to CPCs, LFS, TP53 mutation, and central nervous system tumors. Selection criteria included studies investigating the link between CPCs and LFS, their management approaches, and genetic implications of TP53 mutations. Ten relevant studies were selected for analysis after screening titles, abstracts, and full-text articles. Data extraction focused on clinical, genetic, and management factors related to CPCs associated with LFS. The review highlighted the strong association (36%) between CPCs and LFS, primarily due to TP53 germline mutations. Studies emphasized the need for genetic testing in patients with CPCs, especially in pediatric cases, to identify LFS implications. Furthermore, the impact of TP53 mutations on treatment strategies was emphasized, recommending irradiation-sparing therapies due to inferior survival rates associated with radiotherapy in LFS patients with CPCs. Cases illustrated the challenges in diagnosing CPCs and the importance of immunohistochemistry and genetic testing for TP53 mutations. CPCs pose challenges in diagnosis and management, particularly in distinguishing them from benign tumors. The association with LFS, often due to TP53 germline mutations, underscores the importance of genetic testing for early detection and tailored treatment strategies. Irradiation-sparing therapies are recommended for LFS-associated CPCs to mitigate the risk of secondary malignancies. Comprehensive profiling of CPC patients, especially in pediatric cases, is crucial for early detection and management of potential secondary cancers associated with LFS.

Local Therapy for Metastatic Colorectal Cancer: A Case-Based Review.

The oligometastatic disease state, defined as a cancer with 5 or fewer sites of metastasis, is a therapeutic opportunity to improve oncologic outcomes. Colorectal cancer (CRC) was among the first for which oligometastatic treatment was used in routine clinical practice, and recent studies have shown potential for improved overall survival with metastasis-directed therapies. As CRC is the third most common cause of cancer death in men and women, improving oncologic outcomes in this population is of paramount importance. The relatively recent identification of this treatment paradigm and paucity of high-quality data have led to heterogeneity in clinical practice. This review will explore perspectives of a panel of surgical and radiation oncologists for complex or controversial cases of metastatic CRC.

Clinically amyopathic dermatomyositis associated with cutaneous ulcerations: a case-based review

Introduction and importance: Dermatomyositis (DM) is an autoimmune myopathy primarily affecting both muscles and skin. When muscle weakness is not clinically apparent, but characteristic skin lesions are present, the condition is referred to as clinically amyopathic dermatomyositis (CADM). Case presentation: The authors present the case of a 52-year-old female with a typical DM rash, interstitial pneumonia, and multiple skin ulcers. The skin biopsy was consistent with DM, and there were no signs of muscle involvement. Myositis-related and myositis-specific autoantibodies were also negative. Significant improvement was not observed until the patient received successive monthly pulses of methylprednisolone and the introduction of methotrexate. This treatment regimen allowed for the complete tapering of prednisone and resulted in sustained disease control. Clinical discussion: In addition to the case presentation, a narrative literature review was conducted using the MEDLINE database, and an evidence-based treatment flowchart is proposed. CADM is a subtype of DM, related to higher incidences of interstitial lung disease, skin vasculopathy and malignancy. When ulcers or interstitial pneumonia are present, treatment should be early and aggressive. Active screening for neoplasms is recommended, particularly within the first 5 years. Conclusion: The authors presented a case of seronegative CADM featuring skin vasculopathy, successfully treated with consecutive methylprednisolone pulses. Our literature review emphasized the importance of focused CADM management trials, highlighting the need for further research.

DWI of the Spine: A Review and Update

The utility of DWI in the spine has been established and continues to grow in clinical practice. DWI raises the MR imaging sensitivity of lesion detection and improves the conspicuity of many spinal pathologies. Applications include evaluation of spinal cord infarction, bone marrow lesions, infection, degenerative disease, trauma, osteoporosis, malignancy, and response to therapy. In this article, we provide a case-based review to illustrate and discuss these uses. We also highlight DWI acquisition techniques and challenges. We provide protocol optimization tips that help to overcome these challenges and permit incorporation of DWI into the workflow.Learning Objective: To emphasize the role of DWI in the spine and discuss technical tips and considerations for protocol optimization

A new perspective on vitamin B12 deficiency in rheumatology: a case-based review.

Vitamin B12 (cobalamin) deficiency is common in patients with rheumatic diseases. Pernicious anemia is a well-known cause, but recent reports suggest that autoimmune-derived deficiency may not be limited to this cause alone. Symptoms of low vitamin B12 concentration are often deceptive, mimicking and overlapping with symptoms of other conditions. Neuropsychiatric manifestations, anemia, and fatigue are frequently attributed to a rheumatic disease without further evaluation. In this study, we present three cases of patients with neuropathic pain, depression, fatigue, and muscle weakness, initially attributed to a rheumatic disease, which almost completely resolved after implementing vitamin B12 supplementation. Furthermore, we provide an overview of current scientific reports regarding the potential use of cobalamin in rheumatology. Treatment of pain and neuropathy, often very challenging in long-lasting rheumatic diseases, can be more effective after a course of vitamin B12, even when no apparent deficiency is detected in laboratory tests. Considering recent research demonstrating vitamin B12's nerve-protecting properties, we recommend that physicians should assess vitamin B12 levels early in the diagnostic process of rheumatic diseases. In specific cases, physicians should consider cobalamin supplementation regardless of vitamin B12 serum concentration.

Cute sarcoidosis Löfgren Syndrome treated by Chinese medicinal formula based on Syndrome Differentiation: A case-based review

Löfgren syndrome (LS) is a unique acute manifestation of sarcoidosis and characterized by erythema nodosum, bilateral hilar lymphadenectasis, and/or bilateral anklearthritis or periarthritis. A 37-year-old female patient with LS presented with fever accompanied by multiple joint swelling and pain, nodular skin erythema, and bilateral hilar lymphadenectasis. The patient had received treatment involving non-steroidal anti-inflammatory drugs and glucocorticoids in other hospitals, but the effects were poor, and the conditions reemerged. The LS duration has lasted for more than 3 months. Following traditional Chinese medicine (TCM) treatment, syndrome differentiation as well as giving patients oral Chinese medicine decoction, the symptoms of the patient were rapidly relieved within one week and did not recur during a six-month follow-up period. This case is the first clinical report of acute sarcoidosis LS treated using TCM and reflects the significant advantages of this form of therapy in emergency treatment

Rituximab alleviates pediatric systemic lupus erythematosus associated refractory immune thrombocytopenia: a case-based review.

A complication of pediatric systemic lupus erythematosus (pSLE) is immune thrombocytopenia (ITP). Although corticosteroids and immunoglobulins are frequently used as preliminary treatments, some patients do not respond to them. Rituximab has been reported to be safe and effective in the treatment of pSLE complicated with refractory ITP. Research is currently underway to determine the optimal rituximab dose for these individuals. We report a case of a child with SLE-associated ITP (SLE-ITP) who was successfully treated with rituximab. Rituximab is likely the most viable therapeutic option for refractory SLE-ITP. Furthermore, a comprehensive review of the relevant literature was performed and a concise overview of the pathogenesis and available treatment modalities for pediatric patients diagnosed with SLE and concurrent ITP was provided.

The Radiosurgery Society Case-Based Discussion of the Management of Head and Neck or Skull Base Paragangliomas with Stereotactic Radiosurgery and Radiotherapy

Stereotactic radiosurgery (SRS) and fractionated stereotactic radiotherapy (FSRT) have been used for the treatment of head and neck or skull base paraganglioma for a considerable time, demonstrating promising local control rates and a favorable safety profile compared with surgical approaches. Nevertheless, the choice of treatment must be carefully tailored to each patient's preferences, tumor location, and size, as well as anticipated treatment-related morbidity. This case-based review serves as a practical and concise guide for the use of SRS and FSRT in the management of head and neck or skull base paragangliomas, providing information on the diagnosis, treatment, follow-up considerations, and potential pitfalls.

The Role of the Ophthalmic Genetics Multidisciplinary Team in the Management of Inherited Retinal Degenerations-A Case-Based Review.

(1) Background: Inherited retinal degenertions are rare conditions which may have a dramatic impact on the daily life of those affected and how they interact with their environment. Coordination of clinical services via an ophthalmic genetics multidisciplinary team (OG-MDT) allows better efficiency of time and resources to reach diagnoses and facilitate patient needs. (2) Methods: This clinical case series was conducted by a retrospective review of patient records for patients enrolled in the Target 5000 programme and managed by the OG-MDT, at the Mater Hospital Dublin, Ireland (n = 865) (3) Results: Herein we describe clinical cases and how the use of the OG-MDT optimizes care for isolated and syndromic IRD pedigrees. (4) Conclusions: this paper demonstrates the benefits of an OG-MDT to patients with IRDs resulting in the holistic resolution of complex and syndromic cases. Furthermore, we demonstrate that this format can be adopted/developed by similar centres around the world, bringing with it the myriad benefits.

Role of whole body MRI in paraneoplastic/autoimmune syndromes: An MRPET study to standardize protocols, pattern interpretation, and establish yield of MRI.

Imaging a case of autoimmune encephalitis (AIE) can be challenging as the underlying tumor may be occult. The aim of this retrospective case-based study is to evaluate role of whole-body MRI/Positron emission tomography (PET) in workup of AIE. Standardizing the whole-body MRI/PET protocol, Cross modality yield with serology and magnetic resonance/PET (MR/PET) and finally highlight the advantage of hybrid MR/PET. We present the retrospective review data from January 2016 to December 2019 referred for whole body MR/PET with suspected AIE/Paraneoplastic syndrome, per consensus criteria, treated at a single tertiary center. Analysis is done group wise based on referral being for oncological, immunological or neuropsychiatric condition. Detailed results with sensitivity and specificity are presented in tabular format with case-based review in our series for protocols and advantages of MR/PET. Among total of 600 MR/PET cases, 227 were suspected of AIE/paraneoplastic syndrome and were referred for whole body imaging. Distribution of Group 1 Known oncology group (n = 10), Group 2 Non oncological systemic illness group (n = 174) and group 3 the primary neuropsychiatric illness (n = 43) with Group 2 being largest. The gender distribution was similar and mean age was 42 years. Seronegative cases (n = 130) were greater than seropositive cases (n = 97). Seropositivity was in the following order Autoimmune > Paraneoplastic > Myositis panel. Whole body MRPET yielded occult malignancy in 9% and imaging abnormality in 88% of cases. Whole body MR/PET has an important role in workup of AIE. Selection of the appropriate protocol is important, especially when history and physical examination are nonspecific.

"Tofacitinib Treatment in Refractory Systemic Lupus Erythematosus with Shrinking Lung Syndrome: A Case-Based Review"

"Tofacitinib Treatment in Refractory Systemic Lupus Erythematosus with Shrinking Lung Syndrome: A Case-Based Review"

An overlapping case of IgG4-related disease and systemic lupus erythematosus treated with belimumab: a case-based review.

IgG4-related disease (IgG4-RD) is a systemic condition in which IgG4+ plasma cell infiltration and fibrosis cause organ swelling and lead to diverse clinical manifestations. Although IgG4-RD typically responds to glucocorticoids (GCs), relapse during tapering occurs and an early GC-sparing approach might therefore be beneficial. Systemic lupus erythematosus (SLE) is a chronic inflammatory disease with multiple symptoms that is also treated with GCs as a first-line therapy. Recently, belimumab, a recombinant human IgG-1λ monoclonal antibody that inhibits B-cell activating factor, was approved, but reports of use for IgG4-RD are scarce. Here, we present a rare case of IgG4-RD complicated with SLE which was successfully treated with belimumab. A 67-year-old man was diagnosed with IgG4-RD based on a high serum IgG4 level and histopathological findings. Furthermore, he had pericardial effusion on echocardiography, and laboratory tests revealed thrombocytopenia, autoimmune hemolysis, positive anti-nuclear antibodies, positive anti-DNA antibodies, and hypocomplementemia. These data led to an SLE diagnosis. Treatment was started with prednisolone at 40mg/day, plus hydroxychloroquine, which initially improved both the SLE and IgG4-RD symptoms. During the GC tapering, belimumab was added and clinical symptoms resolved completely. Our case and the literature review summarize reported rare overlapping cases of IgG4-RD and SLE and suggest that belimumab is a promising candidate for the treatment of IgG4-RD.