Vol 8 No 2

Vol 8 No 2
  • Fábio Rêgo Salgueiro, Paulo Cunha, Diana Miranda, Tatiana Pereira, Filipa Pontes, Ana Caetano, Joana Monteiro

    Introduction: Thymic clear cell carcinoma is the most uncommon subtype of thymic carcinoma, with 20 cases reported worldwide.
    Case Description: We present the case of a 61-year-old female with dyspnoea and chest pain for 2 days. Computed tomography (CT) angiography showed pulmonary thromboembolism and the existence of mediastinal and bilateral hilar lymphadenopathy, the largest infracarinal with an inferior axis of 25 mm, and also, micronodules on the left pulmonary parenchyma. The patient was admitted for aetiological assessment and underwent anticoagulant therapy. After a month, she had an ischaemic stroke, the sequelae of which proved to be fatal. The autopsy showed a mass in the superior-anterior mediastinum, with dimensions of 11×8×6 cm, corresponding to a thymus signet ring cell primary carcinoma. The immunohistochemistry study revealed that this mass was positive for AE1/AE3, CK5/6 and CK7.
    Conclusion: The clinical, morphological and immunophenotypic diversity of this tumour makes its diagnosis a difficult multidisciplinary challenge, which requires a high level of clinical knowledge and accurate imaging and histological investigation.

  • Sara Almeida Ramalho, Francisca Abecasis, Letícia Santos, Vanessa Leite, Diogo Gonçalves, Inês Pintassilgo, Ana Luisa Broa

    Hypercalcaemia is a frequent finding in malignancies including lymphomas. However, there are no reports of hypercalcaemia in hepatosplenic T-cell lymphoma (HSTCL). HSTCL is a rare and aggressive neoplasm which is usually difficult to diagnose. We present a case of HSTCL in which hypercalcaemia was the initial presentation.

  • Rúben Reis, Francisco Adragão, Catarina Parente, Inês Nunes, Armindo Ramos, Inês Nabais, Isa Silva

    Influenza virus infection can have a range of presentations, from asymptomatic to life-threatening disease. We present the case of a 57-year-old woman with a known history of schizophrenia (controlled with medication) who presented to our emergency department in a coma after experiencing a seizure. She had reported flu-like symptoms in the previous week, which evolved to dyspnoea and altered mental status culminating in seizures and coma. Influenza virus A (H3N1) was identified in the cerebrospinal fluid. Although a rare cause of encephalitis, the influenza virus should be considered in the differential diagnosis, especially during epidemics.

  • Andra Glodean, Rainer Grobholz, Karim El-Hag, Mairi Ziaka, Jean-Paul Schmid

    Introduction: Arterio-oesophageal fistulae are a very uncommon cause of severe gastrointestinal bleeding, and mostly result from an aberrant right subclavian artery and mediastinal surgery or prolonged endotracheal/nasogastric intubation.
    Material and Methods: We present the case of a patient with an oesophageal adenocarcinoma and haematemesis due to a subclavian arterio-oesophageal fistula after mediastinal radiotherapy. 
    Conclusion: We discuss the rare, life-threatening condition of acute erosion of the left subclavian artery caused by an oesophageal tumour and presenting with Chiari's triad.

  • Joana Ferra, Filipa Mousinho, Francisca Miranda, Sandra André, Celina Afonso, Fernando Nogueira

    Primary effusion lymphoma is a rare and aggressive large B-cell lymphoma presenting as malignant effusion with poor prognosis. Although it is more prevalent among HIV patients, it has also been described in non-HIV immunocompromised individuals. Given its rarity, there are no large randomized trials regarding the best therapeutic option. The choice of therapy is based on retrospective studies, case reports and preclinical data. We present the case of a non-HIV patient with relapsed disease after treatment with CHOP who was then successfully treated with brentuximab vedotin, achieving complete remission.

  • Aasem Abu Shtaya, Shai Cohen, Yana Kogan, Michal Shteinberg, Ori Sagol

    Crohn’s disease is a chronic inflammatory bowel disease that can affect any part of the GI tract, which is frequently associated with extra-intestinal manifestations. Pulmonary parenchymal disease is very uncommon and usually considered to be debilitating and harder to diagnose. Pulmonary granulomas are rarely described in the literature as a complication of Crohn’s disease. Here, we present a patient with Crohn’s disease exacerbation who developed granulomatous lung disease under treatment with vedolizumab. Our case may add evidence to the emerging theory that gut-selective biologic agents could lead to upregulation of some pro-inflammatory factors leading to the evolution of pulmonary disease.

  • José Silvano, Nídia Marques, Isabel Tavares, Inês Ferreira

    L-asparaginase is used for the treatment of acute lymphoblastic leukaemia. Hypertriglyceridaemia is a side effect and associated with potentially fatal complications, including acute pancreatitis. Plasmapheresis may have a role in treatment when triglycerides are >2000 mg/dl.
    We report the case of a 39-year-old woman treated with L-asparaginase for acute lymphoblastic leukaemia, who developed severe hypertriglyceridaemia (6560 mg/dl) and acute pancreatitis. Intravenous insulin infusion was started, along with fenofibrate and atorvastatin administration, and platelet transfusion. Plasmapheresis was carried out leading to a frank decline in serum triglyceride levels (366 mg/dl), a decrease in pancreatic enzymes and clinical improvement.
    The diagnosis of pancreatitis secondary to L-asparaginase should lead to immediate drug withdrawal, and plasmapheresis should be considered when serum triglyceride values exceed 2000 mg/dl. In our case, there was a 95% triglyceride removal rate. This response illustrates the strong effectiveness of early treatment with plasmapheresis in severe and symptomatic hypertriglyceridaemia associated with L-asparaginase.

  • Ana Paula Perestrelo, Gonçalo Filipe Lopes Miranda, Maria Inês Gonçalves, Carolina Belino, Rosa Ballesteros

    Copper, as a salt, is toxic and has the potential to harm multiple organs. Copper intoxication causes intravascular haemolysis followed by liver and kidney failure that can be fatal. We present a case of chronic copper sulfate poisoning in a 66-year-old man with dysphagia to solids and liquids, anaemia, acute kidney injury, liver cytolysis and hypocalcaemia. The patient improved with supportive care, but chronic kidney disease was established. Anamnesis was crucial for the diagnosis, given the non-specific signs and symptoms. The history of chronic exposure to pest treatment with a blue dust cloud made us suspect copper sulfate poisoning.

  • Gabriela Pereira, Ana Pires, Sandra Barbosa, Jorge Cotter

    The authors describe the case of a patient with primary monophasic pulmonary synovial sarcoma presenting as a right pleural effusion, and discuss the underlying diagnostic challenges.

  • Lissandra Dal Lago, Julie Sarrand, Erwin Woff, Ahmad Awada, Michaël Vouche, Thierry Pepersack

    An association between lymphoma and sarcoidosis was first suggested in 1960. We report a case of sarcoidosis-lymphoma syndrome, which is a diagnostically challenging condition. We conclude that an associated lymphoma should be considered in all patients with suspected sarcoidosis, especially those who do not respond to treatment or who present with persistent haematological abnormalities. Splenomegaly should prompt splenectomy to rule out lymphoma if a less invasive approach has failed to confirm the diagnosis.

  • Ana Oliveira, Diana Valadares, Filipe Nery

    Despite worldwide vaccination campaigns, hepatitis B virus (HBV) infection remains a major public health problem. The natural history ranges from asymptomatic infection to severe liver injury or failure, chronic complications or reactivation episodes. The effects of HBV on the organism are immunomediated, possibly triggering extrahepatic manifestations. Since 1971, only a few cases of pleural effusion related to HBV infection have been described. We report HBV-associated pleural effusion occurring during a viral reactivation episode. Antiviral treatment directed towards pleural effusion related to HBV infection should be dictated by underlying liver disease severity and not pleural effusion severity.

  • Rúben Reis, Anneke Joosten, Francelino Ferreira, Magda Silva, Catarina Parente, Inês Maia

    Granulomatosis with polyangiitis (Wegener’s granulomatosis) is a systemic vasculitis that primarily affects small and medium vessels. Its manifestations are usually confined to the upper airway, lower airway and kidney. It can also affect other organs and systems, although this is unusual. We describe the case of a 67-year-old woman who presented with a tension pneumothorax due to rupture of a pulmonary cavity. This pulmonary cavity proved to be secondary to systemic disease which also caused a tumour in her kidney. Biopsy showed non-necrotizing granulomatosis, and even though antineutrophil cytoplasmic antibodies (ANCA) were negative, the diagnosis of granulomatosis with polyangiitis was made.

  • Muhammad Awidi, Meenu Jain, Russell Baur

    Transplant-associated thrombotic microangiopathy (TA-TMA) can occur after solid organ transplantation. It results in thrombocytopenia, haemolytic anaemia and microvascular occlusion. TA-TMA is not fully understood and treatment has not been clearly established. However, there is increasing evidence to suggest an immune-complement mediated component to its development. Eculizumab is a monoclonal antibody that inhibits the cleavage of C5 into pro-inflammatory, prothrombotic terminal complement elements and has been utilized in the treatment of atypical haemolytic uremic syndrome. We report a case of TA-TMA successfully treated with eculizumab and romiplostim. This case adds to the evidence that TA-TMA is triggered by complement dysregulation and suggests possible interventions for refractory cases.

  • Lorenzo Grazioli Gauthier, Natalie Marcoli, Gianluca Vanini, Enos Bernasconi, Dea Degabriel

    Giant cell arteritis (GCA), or Horton’s arteritis, presenting solely as fever is very rare. Usually, it manifests with typical features such as visual problems, headache and jaw claudication, or it can be associated with polymyalgia rheumatica. We describe the case of a patient with GCA who presented only with prolonged fever, the cause of which was not determined by diagnostic tests.

  • Catarina Lameiras, Ana Corte-Real, Ana Órfão, Marta Mendes Lopes, Maria do Céu Dória

    Kounis syndrome (KS) is defined as acute coronary syndrome (ACS) triggered by mast cell and platelet activation in the setting of allergic or anaphylactic insults. KS is a unique and complex cause of ACS and many cases may be missed due to its highly variable clinical manifestations. In this report, we present a case of KS type I triggered by metamizole in the absence of a previous history of allergy to this drug. Following the administration of metamizole, the patient developed generalized acute urticaria, chest pain and diaphoresis. Electrocardiography (ECG) showed ST-segment elevation suggestive of myocardial infarction complicated by ventricular tachycardia. No coronary disease was observed on coronary angiography. The cardiac manifestations of KS may be life-threatening, and so it is important to appropriately recognize and treat this condition.

  • Joana Ferra, Cátia Guimarães, Cristina Matos, Fernando Nogueira

    Synchronous tumours are defined as two or more independent primary neoplasms of different origins diagnosed at the same time in 1 individual. Although rare, its incidence is increasing and the proper diagnosis and staging of each tumour is crucial in defining the patient prognosis and the best therapeutic choice. We present a case of a 56-year-old woman presenting with a lung adenocarcinoma and pulmonary metastases initially diagnosed as stage IV and who was started on a tyrosine kinase inhibitor (erlotinib). In the meantime, she was also diagnosed with papillary thyroid carcinoma and was submitted to complete thyroidectomy. After 6 cycles of erlotinib, thoracic CT showed a decrease in the dimensions of the primary pulmonary tumour, but an increase in the size and number of pulmonary metastases while blood tests showed elevated thyroglobulin. This therefore raised the possibility that the metastases could have originated from the thyroid carcinoma. Anatomo-pathological examination of the lung metastases confirmed this hypothesis. In conclusion, it is important to confirm the origin of metastases in synchronous tumours given this can lead to a re-staging of tumours and a different prognosis, along with other therapeutic options. A multidisciplinary team meeting is crucial to define management and therapeutic approaches for these patients.

  • Balraj Singh, Parminder Kaur, Michael Maroules

    COVID-19, caused by severe acute respiratory syndrome coronavirus 2 infection, has caused the ongoing global pandemic. Initially considered a respiratory disease, it can manifest with a wide range of complications (gastrointestinal, neurological, thromboembolic and cardiovascular) leading to multiple organ dysfunction. A range of immune complications have also been described. We report the case of a 57-year-old man with a medical history of hypertension, prediabetes and beta thalassemia minor, who was diagnosed with COVID-19 and subsequently developed fatigue and arthralgias, and whose blood work showed hyperferritinemia, elevated liver enzymes (AST/ALT/GGT), hypergammaglobulinemia, anti-smooth muscle antibody, anti-mitochondrial antibody, and anti-double-stranded DNA antibodies. The patient was diagnosed with autoimmune hepatitis–primary biliary cholangitis overlap syndrome triggered by COVID-19. To our knowledge, this is the first such case reported.

  • Silvia Ciotti, Antonella Cometa, Claudia De Carlo, Giancarlo Martini, Andrea Marona, Laura Filippetti, Diego Carducci, Silvano Baratta, Mauro Zampolini, Francesco Corea

    Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disease which confers an increased risk of malignant tumour development. Relapsing remitting multiple sclerosis (RRMS) is an inflammatory demyelinating disease of the central nervous system. The coexistence of multiple sclerosis and NF1 is rare but has been reported. Here, we describe the case of a 31-year-old man with NF1 and subacute walking problems with proximal pain in the lower limbs who was successfully treated with natalizumab.

  • Francesca Irene Rampolli, Premila Kamler, Claudio Carnevale Carlino, Francesca Bedussi

    Amanita muscaria is considered to be one of the most remarkable and beautiful mushrooms. It has a red or orange cap covered with small white plaques and its distinctive appearance makes accidental and severe intoxication very rare. Its consumption is sometimes used as a means of suicide or it can be consumed for its psychedelic effects, and in some cases, it can be mistaken for edible species. In this paper, we will discuss a patient who fell into a coma after accidental Amanita muscaria poisoning. Rapid identification of the mushroom allowed the regression of symptoms and discharge from the hospital on the fourth day after consumption.

  • Francesca Curri, Andrea Da Porto, Viviana Casarsa, Daria Albini, Giorgio Minen, Leonardo Alberto Sechi

    We report a case of mechanical mitral valve endocarditis associated with miliary disseminated bacillus Calmette-Guerin (BCG) infection following intravesical instillations for minimally invasive bladder cancer in a 65-year-old man. The diagnosis was established by echocardiographic evidence of vegetation on the prosthetic mitral valve, miliary lesions in the lungs and evidence of bloodstream infection sustained by Mycobacterium. We successfully treated the patient with the classical regimen of quadruple antituberculous therapy.