2021: Vol 8 No 4

Rheumatoid vasculitis is a rare, extra-articular manifestation that can be seen in long-standing rheumatoid arthritis. Here we present the case of a 51-year-old man who presented with arthralgias, skin rash, dyspnoea and generalized leg swelling and who was diagnosed with rheumatoid arthritis flare.

Proteus syndrome is an extremely rare disorder that manifests as an asymmetric, disproportionate overgrowth of any connective tissue, such as bone, fat or epidermal nevi, in a mosaic or patchy pattern. It has an estimated prevalence of less than 1/1,000,000 live births. The diagnosis can be difficult because the phenotypes of the patients are variable. Many individuals develop cutaneous capillary malformation and prominent varicosities (large and complex vascular malformations). Thus, Proteus syndrome patients are at risk of developing deep vein thrombosis and pulmonary embolism. The authors present the case of a patient with Proteus syndrome who was admitted because of pulmonary thromboembolism and presented hypertrophy of the left arm and left hemithorax.

Gemfibrozil is a lipid-regulating agent used mainly to treat patients with hypertriglyceridaemia, especially those at risk for acute pancreatitis. Like any other pharmacological agent, gemfibrozil has known adverse effects, mainly gastrointestinal, such as cholelithiasis, gallstones, elevated transaminase, and other non-specific symptoms including dyspepsia, nausea and vomiting. Other reported adverse reactions are dizziness and vertigo, myopathy and rhabdomyolysis, angioedema, urticaria and rash. As far as we knew, gemfibrozil does not have urinary tract adverse reactions. In this report, we present a case of polyuria secondary to gemfibrozil with a score of 9 on the Naranjo scale, and a literature review.

A 79-year-old woman presented with fever and pleural chest pain. Based on the assessment of mild community pneumonia in an immunocompetent patient, outpatient follow-up was planned. However, the patient was admitted several hours later with a diagnosis of pneumococcal pneumonia with bacteraemia. In addition, selective immunoglobulin M deficiency was detected. In this case, although a history of recurrent osteomyelitis was provided, the physicians overlooked the information suggesting immunodeficiency, which led to an incorrect diagnostic and management decision. Obtaining the past medical history is essential, but utilizing it is even more important to avoid clinical decision-making errors.

Spontaneous coronary artery dissection (SCAD) is increasingly recognized as an important cause of acute coronary syndrome (ACS) and myocardial infarction (MI) in individuals with few or no known atherosclerotic risk factors. While systemic autoimmune inflammatory disorders are associated with precipitating SCAD, the role of infection-induced systemic inflammation in SCAD is not well defined. We present the case of a 49-year-old Caucasian woman with ST-elevation myocardial infarction (STEMI) diagnosed as SCAD from a severe systemic inflammatory response related to disseminated blastomycosis. Punch biopsy of a skin lesion and synovial fluid culture confirmed Blastomyces dermatitidis. This case suggests the possibility of systemic infection-induced inflammation as a precipitating factor in SCAD pathogenesis similar to autoimmune inflammatory disorders.

Rheumatoid arthritis (RA) is a chronic inflammatory disease characterized mainly by arthritis, with the possible occurrence of extra-articular manifestations. We report the case of a patient who developed leptomeningitis as the first sign of RA, one year before the diagnosis of RA. Methylprednisolone 1000 mg was given intravenously. Because of the onset of seizures and cognitive impairment, rituximab was started. After three cycles of rituximab (1000 mg on day 0 and 1000 mg on day 15, every 6 months), neurological clinical examination, MRI and electroencephalogram findings were significantly improved.

As the numbers of cases of COVID-19 continue to rise, the heterogeneity of its clinical manifestation continues to increase. Here, we describe a case of delayed-onset, biopsy-proven necrotizing myositis following infection with SARS-CoV-2.

Granulomatosis with polyangiitis (GPA) is the most common antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV). We describe the case of a 38-year-old woman with relapsing GPA who presented with intracranial hypertension, followed by the appearance of cavitated lung nodules despite treatment with azathioprine. Clinical improvement and ANCA titre reduction were observed after rituximab treatment. We report a rare form of GPA relapse and highlight the challenge of following-up patients with GPA, in whom can be hard to distinguish relapse from the consequences of long-term immunosuppression.

Introduction: A condition called multisystem inflammatory syndrome in children (MIS-C), related to past SARS-CoV-2 infection, has been described in a series of cases. There is a growing body of evidence suggesting a similar entity in adults (MIS-A). We report a case of a young adult with a hyperinflammatory systemic syndrome with end-organ lesions and a recent SARS-CoV-2 infection.

Methods and Procedures: The patient developed end-organ lesions in the respiratory, cardiovascular, digestive, haematological and mucocutaneous systems. A wide diagnostic work-up did not find any specific aetiology (autoimmunity, neoplastic or infectious). There was evidence of past SARS-CoV-2 infection with positive autoimmune titres (positive IgG). A presumptive diagnosis of MIS-A was made and treatment with corticosteroids was introduced with improvement.

Discussion: COVID-19-related multisystem inflammatory syndrome in adults is still an unknown entity with no diagnostic criteria or treatment guidelines. Much of what is known is inferred from what we already know about MIS-C. There have been several reported cases with severity ranging from mild to severe. The mechanisms behind this condition are still largely unknown. More evidence is needed to establish diagnosis and treatment.

Prescriptions for the novel oral anticoagulant factor Xa inhibitors (rivaroxaban, apixaban, edoxaban) have equalled or exceeded those for vitamin K antagonists in many clinical settings requiring chronic anticoagulation, and those of injectable heparins for deep vein thrombosis prophylaxis. The authors report the case of an 80-year-old woman followed by her cardiologist for permanent atrial fibrillation who was prescribed apixaban. Within a few days the patient developed neurological symptoms of imbalance and non-vertiginous dizziness, headache, confusion/disorientation and asthenia. Her symptoms began to resolve after the drug was stopped, with return to baseline function within 72 h. The plasma concentration of apixaban was 4 times higher than the laboratory upper limit of normal. Symptoms did not recur when the patient was switched to rivaroxaban therapy.

We present the case of an 84-year-old female patient hospitalized for surgical treatment of a hip fracture who re-tested positive for SARS-CoV-2 with an RT-PCR nasopharyngeal swab approximately 6 months after presenting mild respiratory symptoms with confirmed COVID-19 in April 2020. We discuss the possibility of reinfection, long-term viral shedding and residual positivity, the limitations of RT-PCR swab tests, and the necessity for new testing methods as the COVID-19 pandemic spreads and long-lasting immunity is uncertain.

Necrotizing fasciitis is a serious soft tissue infection that causes necrosis of the subcutaneous tissues and the muscle fascia. It is associated with a high mortality rate of around 25%. Necrotizing fasciitis of the breast is a rare entity. It is a rapidly progressive life-threatening condition which can lead to sepsis with multiple organ failure. We describe a case of necrotizing fasciitis of the right breast in a 48-year-old patient diagnosed with systemic sclerosis–rheumatoid arthritis overlap syndrome.

The VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently described X-linked autoinflammatory condition caused by a somatic mutation of the UBA1 gene and characterized by an evolving phenotype. This includes inflammatory processes such as recurrent fever, Sweet’s syndrome of the skin, pulmonary fibrosis, relapsing polychondritis and venous thromboembolism. An important feature, present in almost all cases, is the development of a macrocytic anaemia with vacuolization of myeloid and erythroid precursors. Usually, these patients require high doses of steroids to control symptoms and respond poorly to disease-modifying drugs. 
We describe a new case of the VEXAS syndrome presenting with Sweet’s syndrome which has now been followed for 6 years.

The aetiology of pulmonary nodules is varied, with malignant lesions being the most important and requiring rapid diagnosis and treatment. However, although clinical presentation and imaging may suggest a specific diagnosis, it should be kept in mind that some benign pathologies mimic more serious disease.
A 50-year-old man presented with left pleuritic chest pain. A CT scan showed an ipsilateral pulmonary spiculated nodule. Pneumonia was assumed and the patient was started on antibiotic therapy. In the absence of improvement, positron emission tomography and a transthoracic aspiration biopsy were performed. Lung cancer was diagnosed and the patient underwent an upper lobectomy. However, examination of the surgical specimen showed no malignancy.

22q11.2 deletion syndrome typically presents with congenital cardiac anomalies, immunodeficiencies and hypoparathyroidism. However, clinical findings vary greatly. We present the case of a 56-year-old man, with a history of cleft palate and schizophrenia, who was newly diagnosed with 22q11.2 deletion syndrome during an episode of hypocalcaemia. The syndrome is caused by developmental abnormalities of the embryonic pharyngeal arch system. Treatment of hypocalcaemia with oral calcium and vitamin D is usually sufficient.

Introduction: Epstein-Barr virus (EBV) is notorious for its varied presentation in adults. Reactivation of EBV can occur at any time and is often due to weakened cellular immunity. 

Case Description: Here we report the case of a young woman with no previous medical history who presented with cholestatic hepatitis, Coombs-negative haemolytic anaemia and splenomegaly. Due to the initial disjointed picture with no other localizing symptoms, she underwent extensive work-up for the same.

Discussion: EBV has been associated with many malignancies, autoimmune diseases and chronic fatigue syndrome. EBV causes elevated liver enzymes; however, cholestatic hepatitis is exceedingly rare, with only a few cases reported. Haemolytic anaemia is a common complication of EBV infection and is often Coombs positive.

Conclusion: EBV testing should be considered before more invasive and expensive work-up in a patient presenting with multi-systemic abnormalities.

Multiple neurological complications including Guillain-Barré syndrome (GBS) have been associated with COVID-19. We describe a case of GBS related to SARS-CoV-2 infection with an unusual presentation beginning with mobilization problems at home without previous classic respiratory or general manifestations. Asymptomatic infection with COVID-19 can lead to critical situations with respiratory insufficiency because of neurological complications such as GBS.

Introduction: Foix-Chavany-Marie syndrome (FCMS) is a type of pseudobulbar palsy that affects facio-pharyngo-glosso-masticatory muscles.

Materials and Methods: A 62-year-old man was admitted to the emergency department after 9 hours of acute dysarthria and dysphagia. MRI showed restricted diffusion in the right operculum on diffusion-weighted imaging (DWI). No thrombolytic therapy was given. The patient had a history of mechanical aortic valve replacement under anticoagulation with a vitamin K antagonist. Work-up demonstrated suboptimal levels of INR. Due to severe dysphagia during hospitalization, a percutaneous endoscopic gastrostomy (PEG) was performed.

Results: The patient was discharged 5 days later, with a modified Rankin scale (mRs) score of 3, and secondary stroke prevention. He had achieved an excellent functional outcome (mRs 1) at 6-month follow-up.

Conclusion: Our patient had a satisfactory recovery due to prompt diagnosis, secondary stroke prevention, and compliance with treatment.

Hypereosinophilic syndrome (HES) is a heterogenous group of diseases characterized by abnormal accumulation of eosinophils in the blood or peripheral tissues. It can affect all organs and therefore clinical manifestations are highly variable. We describe the case of a 38-year-old man admitted for febrile polyserositis. He developed cardiac tamponade requiring pericardiocentesis complicated by left ventricle perforation which was successfully repaired. He presented mild peripheral eosinophilia. Bronchoalveolar lavage evidenced eosinophilic alveolitis, and pleural and pericardium histopathology revealed the presence of abundant eosinophils. All other causes of tissue eosinophilia were excluded and the diagnosis of idiopathic HES was made. The patient was started on glucocorticoids with resolution of symptoms. This case report describes a rare but potentially fatal presentation of HES and demonstrates the difficulty and delay in diagnosis when peripheral hypereosinophilia is absent.

We report the case of a 76-year-old man presenting with reactive haemophagocytic lymphohistiocytosis (rHLH) in the setting of disseminated prostate cancer. This often fatal syndrome must be diagnosed early in order to maximize survival. Treatment should be initiated whenever the clinical diagnosis is suspected, even if the HLH-2004 criteria are not met. The HScore is a useful diagnostic tool for rHLH. In case of neurological symptoms, an extensive assessment must be performed. The goal of this case report is to raise awareness of this rare syndrome among oncologists.