• Shuwei Zheng, Cheng Chuan Lee

    We describe a patient with a Salmonella enteritidis mycotic aneurysm. A 91-year-old man presented with recurrent episodes of S. enteritidis bacteraemia 2 months apart. During the second presentation, he underwent magnetic resonance imaging of the left lower limb that revealed rupture of the popliteal artery with a popliteal fossa collection. This was aspirated and cultures grew S. enteritidis. He underwent endovascular stenting and received a prolonged course of antibiotics. Popliteal artery mycotic aneurysm should be considered as a differential in patients presenting with unilateral painful leg swelling and bacteraemia from microorganisms with a propensity for endovascular infections.

  • Pietro Benedetto Faré, Ileana Allio, Rita Monotti, Fabrizio Foieni

    A young woman presented with right upper quadrant abdominal pain exacerbated by movement and breathing. Extensive evaluation revealed no gallstones or any other specific cause. Urine polymerase chain reaction results for Chlamydia trachomatis were positive, so the clinical diagnosis of Fitz-Hugh-Curtis syndrome was confirmed. This type of localized peritonitis is thought to be a complication of an ascending genital infection leading to pelvic inflammatory disease. The diagnosis is established on clinical grounds after excluding alternative, more common conditions. Proper antibiotic treatment usually leads to recovery and prevents long-term complications.

  • Javier Moreno Díaz, David De las Cuevas León, Ana Martinez González, Rebeca Rubio Escuin

    We present the case of a 70-year-old male patient with fever of unknown origin after a long period of convalescence from a previous admission to a chronic care hospital. During the admission, multiple combinations of antibiotic and antifungal treatments were prescribed, but with persistent fever and, eventually, neutropenia (200 lymphocytes, 0 neutrophils). Given the suspicion of infection at bone marrow level, a biopsy was performed as was serology of Leishmania, both diagnostic determinations.
    Treatment with amphotericin B liposomal resulted in a good outcome.

  • Cátia Barreiros, Lúcia Meireles-Brandão, Duarte Silva, Carmélia Rodrigues, Diana Guerra

    Sarcoidosis is a risk factor for the development of cryptococcal infection due to dysfunction at T-cell level. Its rarity may, however, delay diagnosis and treatment. We describe the case of a 60-year-old man, diagnosed with sarcoidosis since 1999. He had never received systemic immunomodulatory therapy, such as corticosteroid therapy. In 2012, he was diagnosed with pulmonary cryptococcosis and treated with fluconazole. In April 2013, he presented with symptoms compatible with central nervous system (CNS) infection, namely, Cryptococcus neoformans meningitis. He was treated with amphotericin B, followed by fluconazole. The clinical outcome was favourable.

  • Javier Moreno Díaz, Ana Martinez Gonzalez, Rosa Eva Bautista Alonso, Jose Miguel García Bruñén, Gonzalo Acebes Repiso

    Immunoglobulin A (IgA) vasculitis is a rare entity in adults. It can be triggered by allergens such as drugs, food, or insect bites. We present a case of an adult male with a cutaneous IgA vasculitis of palpable purpura after eating canned sardines.

  • Raquel Mesquita, Inês Santos, Helena Monteiro

    Glanzmann thrombasthenia (GT) is a rare inherited disorder associated with abnormal platelet function. Non-surgical bleeding is common and can be life-threatening. A 70-year-old woman with GT presented with a 3 week history of melena and asthenia. She had hemoglobin of 3.8 g/dL. Both upper and lower endoscopies were inconclusive. Video capsule endoscopy showed multiple angioectasias and erosions in the distal ileum. Following several days of recurring intestinal hemorrhage, only treatment with recombinant activated factor VII proved to be effective, enabling patient stabilization with no further bleeding. Control and prevention of bleeding among these patients is imperative and remains challenging.

  • Moneeb Sefeldawla Mustafa, Megan Marshal, Emer Ahern, Paul Crowley

    Myasthenia gravis is an autoimmune disorder affecting the neuromuscular junction, resulting in muscle fatiguability and weakness.
    The pathological characteristics of the disorder include ocular weakness resulting in diplopia and/or ptosis. More generally, the disease can result in fluctuant weakness of skeletal muscle, predominantly affecting ocular, bulbar and respiratory muscles. Autoimmunity in this instance is mediated by IgG anti-acetylcholine receptor antibodies that results in an impaired structure of postsynaptic neurotransmission. Approximately 15% of patients with myasthenia gravis present with bulbar symptoms, of which isolated bulbar symptoms are seen only on occasion. As with our patient, this presentation is most commonly seen in men with late-onset myasthenia gravis.
    We present a case of an 83-year-old male who presented with a 1 year history of dysphagia for solids and fatigable dysarthria. Following a diagnosis of myasthenia gravis, he was initiated on corticosteroid treatment. He later descended into myasthenic crisis, requiring invasive ventilation measures due to a failure of both non-invasive ventilation and intravenous immunoglobulin G (IVIG) to achieve therapeutic goals.

  • Elisa Brauns, Sophie Schuind, Laetitia Lebrun, Valentine Inthasot, Frédéric Vandergheynst

    A young woman presented with initial epileptic seizures and multiple ‘mass-like’ lesions seen on computed tomography and magnetic resonance imaging. Given this presentation and her past medical history, a cerebral biopsy was performed to rule out malignancy, but showed a necrotizing cerebral vasculitis. We describe this case to reinforce the view that primary central nervous system vasculitis (PCNSV) should be considered in the differential diagnosis of a cerebral mass, even if uncommon.

  • Jose Maria Frutos Perez, Mariam Perea Ribis, Maria Angeles Martinez Pascual, Marina Llopis Sanchis, Carlos Tornero Estebanez

    Groove pancreatitis (GP) is a very infrequent subtype of chronic pancreatitis affecting the pancreatic-duodenal junction. It usually manifests in middle-aged men with a history of chronic alcoholism, though it has also been described in women and in individuals who do not consume alcohol[1]. Even though the underlying etiology is unclear, chronic alcohol consumption is known to increase the viscosity of the pancreatic juice and exacerbate the inflammatory process[2]. We present a case of GP that posed diagnostic difficulties because it manifested as ascites and duodenal thickening, with pancreatic imaging findings initially normal.

  • Grainne Callaghan, Fergal Kelleher, Paul Ridgway, Stephen Crowther, Alaa Alakkari, Barbara Ryan

    Introduction: Malignant melanoma of the gastrointestinal tract is usually a metastasis from a cutaneous source. Primary gastric melanoma is an extremely rare clinical entity, with few reported cases worldwide. It is often advanced at time of diagnosis and is associated with a dismal outcome.
    Background: A 76 year old gentleman presenteded with a one month history of fatigue and exertional dyspnoea. Laboratory investigations indicated an anaemia, with a haemoglobin level of 11.0g/dl. Subsequent gastroscopy visualised a large, atypical, crater-like ulcerated lesion distal to the cardia in the proximal stomach.
    Provisional histology was suggestive of a poorly differentiated adenocarcinoma but subsequent cyto-morphology and immunophenotyping were consistent with melanoma, with positive S100 protein, HMB45 and Melan A. Further molecular genetic testing revealed a V600R mutation in the BRAF gene, which is the first primary gastric melanoma with this mutation to be reported in the literature. Given the rarity of the findings, an extensive secondary work-up was undertaken, which concluded the diagnosis primary gastric melanoma. Discussion: Primary gastric melanoma is a rare disease that can present similarly to other upper gastrointesinal lesions, with weight loss, abdominal pain, malena, and anaemia. Given its rarity, the pathogenesis is poorly understood. Lesions are often endoscopically atypical. Important points to note would include the absence of a primary lesion, as supported by a full skin examination and PET-CT findings, which can help to delineate the limitation to the stomach, thus helping to inform subsequent management.

  • Irene García Cuartero, Mónica Rodríguez Galdeano, Montserrat Pérez Pinar, Julián Solís García del Pozo

    We present the case of a 57-year-old man with ataxia and clinical and radiological features of cerebellar degeneration. A computed tomography showed a mediastinal mass. The patient was diagnosed of thymic carcinoma. paraneoplastic cerebellar degeneration is an unfrequent disorder, and its association with thymic carcinoma is very rare.

  • Rashid Naseem Khan, Farhana Saba

    Bartter syndrome is a rare heterogeneous disease characterised by a deficiency in sodium and chloride absorption. Gain-of-function mutations in the CASR gene have been described in some patients with Bartter syndrome associated with hypocalcaemia and hypercalciuria. We describe a case of adult-onset Bartter syndrome with hypocalcaemia severe enough to cause osteomalacia.

  • Cristiana Ferreira, Ana Oliveira, Antonia Furtado, Natividade Rocha, Jose Almeida Ribeiro

    Little has been documented about hypersensitivity reactions caused by treatment with rivaroxaban. This paper reports a bullous pemphigoid-like skin eruption that occurred in a 76-year-old female patient during rivaroxaban treatment. This case highlights the vigilance required by healthcare workers in recognising potential adverse effects of newly marketed drugs and in making medication changes when necessary. A bullous pemphigoid-like eruption due to treatment with rivaroxaban has not, to the best of the Authors’ knowledge, been reported previously in the literature.

  • Catarina Gouveia, Vasco Evangelista, Raquel Almeida, António Martins Baptista

    Immune thrombocytopenia (ITP) related to Mycoplasma pneumoniae infection is a rare condition and usually associated with a severe clinical course. We here report a case of a young man with a clinical diagnosis of severe ITP secondary to M. pneumoniae infection. The clinical features, therapy and outcome are presented.

  • Ana Catarina Lucas, Joana Costa, Joana Paixão, Pedro Ribeiro, Fatima Silva, Adriano Rodrigues

    Abdominal aortic aneurysms are defined as vascular dilatations greater than 50% of the normal proximal segment or those that have a maximum diameter above 3 cm. Risk factors include male gender, age over 75 years, history of vascular pathology, hypertension and arteriosclerosis. The Authors describe a case of a 74-year-old man, evaluated in an emergency setting for right lumbar pain lasting 4 days. The pain did not respond to analgesia and became progressively worse. Due to the severity of symptoms, CT angiography was performed, which showed an active rupture of a partially contained aneurysm associated with aortic dissection. Early diagnosis and timely management of aortic aneurysms are essential in preventing complications, namely rupture (50-83% patients die after rupture and before receiving medical care). Acute aortic dissection is a surgical emergency and the risk of rupture is proportional to the size of the aneurysm and its rate of growth.

  • Vasco Evangelista, Cristiana V. Gonçalves, Raquel Almeida, Célia Henriques, António Martins Baptista, José Pimenta da Graça, José Lomelino Araújo

    Klebsiella pneumoniae invasive syndrome (KPIS) is a rare clinical condition characterized by primary liver abscess associated with metastatic infection. Most case reports are from Southeast Asia, with only one case described in Portugal. The Authors present the case of a 44-year-old man with a history of fever, dry cough and cervicalgia. A thoracic computed tomography (CT) scan showed multiple pulmonary and hepatic nodules, suggestive of metastatic malignancy. Both blood cultures and bronchoalveolar lavage were positive for Klebsiella pneumoniae. Imaging studies were repeated during his hospital stay, showing a reduction in both number and volume of identified lesions, thus revealing their infectious nature. This case illustrates how much this entity can mimic other illnesses.

  • José Pedro Fonseca, Telma Pereiro, Diana Pinho dos Santos, José Miguel Correia, Joana Capelo, Adelino Carragoso

    Objectives: To report a case of mechanical aortic prosthesis Brucella endocarditis successfully treated with antibiotics alone.
    Materials and methods: We describe a clinical case and present a review of the literature.
    Results: A 60-year-old female farmer with a mechanical aortic prosthetic valve presented with low back pain and fever. She was diagnosed with prosthetic valve Brucella mellitensis endocarditis and was cured with antibiotic therapy alone. Few cases of successfully treated prosthetic valve Brucella endocarditis without surgery have been reported.
    Conclusion: Prosthetic valve Brucella endocarditis usually requires surgical valve replacement. However, selected patients may be successfully treated with antibiotic therapy alone.

  • Muhammad Fahad Arshad, Nasir Javed, Syed Monawer Karim, Ehtasham Ahmad, Noor Ul Ain Abid

    Atraumatic splenic rupture is a rare but potentially life-threatening event. It mostly happens when the spleen is already diseased; however, sometimes it can be drug induced in a previously normal spleen. Although anticoagulation has been attributed to spontaneous splenic rupture quite frequently, the role of dual antiplatelet therapy is underestimated. We report a case of an 80-year-old woman who developed spontaneous splenic rupture 4 weeks after starting dual antiplatelet therapy.

  • Joana Silva Marques, Nuno Monteiro, Ana Nunes, João Machado, João Olivério, Ana Sofia Martins, Antonio Correia

    Background: Hyperkinetic disorders such as hemichorea can be caused by cerebrovascular, infectious or inflammatory diseases or by metabolic conditions such as hyperglycaemia. Hyperglycaemic hemichorea is a rare movement disorder which is frequently misdiagnosed. It is characterized by involuntary, continuous, non-patterned movements on one side of the body, basal ganglia lesions seen on head CT or MRI, and clinical improvement after blood glucose normalization. We describe the case of a female patient with uncontrolled diabetes who presented with hemichorea.
    Case presentation: We report the case of a 69-year-old woman with type 2 diabetes who presented with abnormal movements of the right upper limb. She had no neurological signs other than hemichorea. Her blood glucose level was 349 mg/dl and her glycosylated haemoglobin level (HbA1c) was 10.5%. Head CT and MRI showed no changes in the basal ganglia or ischaemic lesions. The patient was started on insulin and haloperidol with clinical improvement.
    Conclusion: Larger case series are needed to establish better understanding of the physiopathological mechanisms and diagnostic criteria of hyperglycaemic hemichorea. The most important diagnostic criterion is clinical improvement after glycaemic control.

  • Jiten Desai, Zalak Desai, Jay Shah, Ofek Hai, Andrea Mignatti, Roman Zeltser, Amgad Makaryus

    A 56-year-old woman presented with gradually worsening shortness of breath associated with dull left leg pain over 5 days. She denied any recent travel, recent surgeries or immobilization.
    CT pulmonary angiography and CT venography revealed multiple bilateral pulmonary emboli and extensive left pelvic and left lower extremity deep vein thromboses. Contrast-enhanced CT showed that the right common iliac artery crossed the left common iliac vein and compressed it externally, indicative of May–Thurner syndrome. Catheter-directed thrombolysis of the left lower extremity was performed and heparin infusion was started. The patient also underwent left iliac vein balloon angioplasty with stenting and infra-renal inferior vena cava filter placement via the jugular approach to prevent further embolization.

  • Fabio Andreozzi, Giovanni Cominetti, Rafik Karmali, Prochore Kamgang

    A 56-year-old woman presented with cognitive impairment, confusion and slowed speech, muscle cramps and peripheral paraesthesia preceded by vomiting. Blood tests revealed severe hypokalaemia, hyponatremia, hypomagnesemia and hypocalcaemia. Following a diagnosis of Takotsubo cardiomyopathy based on ultrasonography, the patient was treated with electrolyte supplementation and recovered within 48h. When heart failure is suspected, electrolyte abnormalities should be carefully ruled out as they can affect cardiac function.

  • Patrícia Afonso Mendes, Diana Marques Ferreira, Helena Temido, Rui Pina, Armando Carvalho

    The association between mesenteric panniculitis and Sjögren's syndrome, although rare, is starting to be recognized. Usually, mesenteric panniculitis is symptomatic, presenting with either general or gastrointestinal symptoms. Sjögren's syndrome is an autoimmune disease that typically affects secretory glands, but may have serious systemic involvement. We report the case of a 77-year-old patient in whom accidental discovery of asymptomatic mesenteric panniculitis on computed tomography led to the diagnosis of Sjögren's syndrome with several systemic manifestations.

  • Sara Ferreira, Arsénio Barbosa, Filipa Gomes, Jorge Almeida, Jorge Santos Almeida, Mário Amorim, José Paulo Araújo

    Tricuspid stenosis is an uncommon valvular abnormality commonly associated with other valvular lesions. Ebstein's anomaly is a rare congenital heart malformation characterized primarily by abnormalities of the tricuspid valve and right ventricle. Endomyocardial fibrosis is a restrictive cardiomyopathy observed in tropical and subtropical regions. It may cause right ventricular distortion with apparent apical displacement of the tricuspid valve, mimicking Ebstein’s anomaly. Eosinophilia is the most commonly cited aetiological link in endomyocardial fibrosis. Here we report the case of 42-year-old male patient who presented with heart failure and severe tricuspid stenosis where a diagnosis of hypereosinophilic syndrome was also established. This case represented a diagnostic challenge in the search for the definitive cause of the tricuspid stenosis.

  • Marta de Sousa, André Casado, Alexandre Buinhas Marques, Francisco Pereira Machado, Isabel Esperança

    Takotsubo syndrome (TS) is an acute and reversible clinical syndrome characterized by transient hypokinesis of the left ventricular (LV) apex. Variant forms of LV dysfunction have been reported, including inverted Takotsubo syndrome (ITS), which represents only 5% of cases and has previously been linked to excessive use of inhaled adrenergic beta-2 agonists. The authors describe the case of a 60-year-old female patient who was diagnosed with ITS after the excessive use of inhaled adrenergic beta-2 agonists. This case highlights an uncommon variant of this syndrome that may not be obvious and must be suspected in this particular context.