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  • Andreas Himmelmann, Rolf Brücker

    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.

  • Joana Braga, Francesca Pereira, Cristiana Fernandes, Marinha Silva, Cristina Marques, Daniela Alves, Carlos Oliveira

    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.

  • Melissa van der Meijs, Dave Henri Schweitzer, Henk Boom

    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.

  • Radhika Kulkarni, Amjad Basheer, Aziz Khan

    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.

  • Julie Paradis, Hendrik Kevers, Soufiane Chebli, Serge Blum, Pascal Reper

    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.

  • Roberto Abel Toledo-Trevino, Diana Manrique-Otero, Enrique Castellanos- Pedroza, Vanessa Cano-Nigenda, Alonso Alvarado Bolanos, Juan Calleja- Castillo, Antonio Arauz

    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.

  • Inês Rueff Rato, Joana Rigor, Paula Ferreira, Joana Laranjinha, Gualter Santos Silva, Daniela Martins-Mendes

    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.

  • Laura Dumont, Adriano Salaroli, Lissandra Dal Lago, Thierry Gil, Thierry Pepersack

    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.