Vol 6 No 2
  • João Tavares, Bernardo Baptista, Bebiana Gonçalves, Pedro Raimundo, Henrique Vaz Velho, Alexandra Bayão Horta

    We present the case of a 22-year-old man who presented with cough, haemoptysis and fever of 3 days’ duration. A teratoma had been diagnosed 2 years previously. Physical examination was unremarkable but laboratory tests showed anaemia, neutrophilic leucocytosis and an increase in C-reactive protein. Chest CT revealed a teratoma of the anterior mediastinum with post-obstructive pneumonitis suggestive of tumour rupture. Antibiotic treatment resulted in a good clinical outcome. The patient was submitted to a left upper lobectomy and pathological examination revealed a mature teratoma. Teratomas are germ cell tumours that are usually asymptomatic and their rupture is a rare event.

  • Priscila Diaz, Mariana Abreu Vieira, António Carneiro, Natália Fernandes

    Systemic lupus erythematosus (SLE) often presents with cytopenia(s); however, pancytopenia is found less commonly, requiring the consideration of possible aetiologies other than the primary disease. The authors describe the case of a female patient with a recent diagnosis of SLE admitted through the Emergency Department with fever of unknown origin and severe pancytopenia. She was medicated with prednisolone, hydroxychloroquine, azathioprine, amlodipine and sildenafil. Extensive investigation suggested azathioprine-induced myelotoxicity. However, the patient was found to have a concomitant cytomegalovirus (CMV) infection, with oral lesions, positive CMV viral load as well as the previously described haematological findings. Pancytopenia is always a diagnostic challenge, with drug-induced myelotoxicity, especially secondary to azathioprine, being a rare aetiology. This report reiterates the importance of the differential diagnosis of pancytopenia, especially in immunosuppressed patients with increased risk for opportunistic infections.

  • Marina Rodrigues Lima, Luis Arthur Brasil Gadelha Farias, Maycon Fellipe da Ponte, Luís Edmundo Teixeira de Arruda Furtado

    Natalizumab is indicated as monotherapy for the treatment of relapsing-remitting multiple sclerosis; it prevents outbreaks and delays the progression of physical disability. Here, we report the case of a 30-year-old patient with multiple sclerosis receiving natalizumab as monotherapy who subsequently developed self-limited cytomegalovirus disease.
    Cytomegalovirus infection has been reported during treatment with natalizumab, and in this study, we use new techniques to analyze the possible association of cytomegalovirus infection with natalizumab.

  • María Mateos, Maria Pilar Cubo Romano, Maria Teresa de Guzmán García Monge, Beatriz Berzal Martín, Aída Sánchez García

    Objective: To review infections by Bordetella hinzii.
    Materials and methods: A 79-year-old male patient, with a chronic aortic valve biological prosthesis, presented to hospital because of fever. First examinations were normal. However, 72 hours later B. hinzii was isolated in blood cultures, and so meropenem was prescribed. Nevertheless, fever and B. hinzii bacteraemia were still present 7 days later.
    Results: The transoesophageal echocardiogram revealed an enlarged image suggesting a periprosthetic abscess, confirmed with a PET-CT scan. The patient was sent for cardiac surgery, and biopsy samples confirmed the presence of B. hinzii.
    Conclusion: There are very few cases of B. hinzii infection in humans. Ours is the first described case of B. hinzii endocarditis.

  • Vânia Rodrigues, Carolina Lopes, Adilson Marcolino, Madalena Pinto

    Chorea is a movement disorder usually due to vascular, hereditary, metabolic or drug- induced causes, and has rarely been reported in association with polycythemia vera (PV). Polycythemic chorea is an uncommon clinical entity that occurs more often in elderly women. PV is a treatable cause of chorea and must be considered during the diagnostic approach. We report the case of a 75-year-old woman with involuntary movements of the mouth and face with subsequent involvement of the trunk and limbs who was admitted for investigation of the chorea. The patient had the haematological attributes of PV and a positive mutation in the janus kinase 2 (JAK2) gene, and was therefore treated with hydroxyurea which led to a marked reduction in the chorea and improvement in haematological parameters. Various aetiologies of chorea must be considered in the elderly. The present case illustrates the importance of considering PV in the differential diagnosis, since its treatment leads to chorea resolution, thus avoiding serious complications.

  • Valeria Di Stefano, Margherita Migone De Amicis, Cecilia Bonino, Natalia Scaramellini, Yvan Torrente, Stefania Picone, Francesca Minozio

    Objective: We describe a rare case of group G streptococcus (GGS) sepsis complicated by bacterial toxin myopathy.
    Case: A 65-year-old man, with a history of infection of his shoulder prosthesis, presented with multiorgan failure and notable myalgia likely caused by toxins. The patient was treated successfully with antibiotics and prosthesis removal.
    Conclusion: This case suggests infection by GGS should be considered in a patient presenting with myalgia associated with sepsis.

  • Ana Pãosinho, Ana Luísa Esteves, António João Pereira

    Malignant pericardial effusion is common, being reported in 5–15% of all cancer patients. It most commonly arises from metastasis of lymphomas and of tumours of the lung, breast and, infrequently, the gastrointestinal tract. We describe the case of a 76-year-old woman who presented to the emergency room with cervical adenopathies and clinical signs of acute heart failure. The nodes were biopsied and found to be consistent with adenocarcinoma of the colon. CT showed thoracic lymphatic involvement but no evidence of other organ involvement. The patient developed cardiac tamponade and required emergent pericardiocentesis. To our knowledge, this is the first report of metastatic colon cancer without direct involvement of the pericardium or other solid organs.

  • A. Graham Cummiskey, Michael Reardon

    Introduction: Mycoplasma pneumonia is one of the most common types of pneumonia, although it is often not diagnosed due to mild clinical course.
    Aims: In this case study we aim to describe the importance of considering mycoplasma pneumonia in high-risk groups.
    Methods: We present the case of a 27-year-old woman admitted with pneumonia, progressing to acute respiratory distress syndrome and acute kidney injury. She had a prolonged stay in the ICU, requiring intubation and continuous veno-venous haemofiltration (CVVH). After 1 month in hospital, she was discharged with full recovery.
    Discussion: Mycoplasma pneumonia is a common type of pneumonia in the community, but only a small percentage of patients require hospitalization. Delayed treatment can result in multi-organ failure, which requires intensive care and long hospital stays.

  • Anum Fasih

    Pseudohypoparathyroidism encompasses a group of heterogeneous disorders defined by targeted organ unresponsiveness to parathyroid hormone (PTH). With an estimated prevalence of approximately 0.79 per 100,000, this is an extremely rare group of genetic disorders. The documented phenotypic manifestations and complications of this condition include skeletal abnormalities, thyroid-stimulating hormone (TSH) resistance, growth hormone deficiencies and abnormalities in gonadotropic hormones. However, the cardiovascular effects of this condition have never been studied. To the knowledge of the writer, this is the first report of pseudohypoparathyroidism resulting in profound hypocalcaemia leading to heart failure in a previously healthy 22-year-old man with no known cardiac history. Following treatment with calcium replacement therapy, the patient’s cardiac function improved dramatically, demonstrating the seminal role played by serum calcium in myocardial contractility and its influence on cardiac function.

  • Joao Galaz Tavares, Bernardo Baptista, Bebiana Gonçalves, Alexandra Bayão Horta

    A 49-year-old female patient presented to our hospital with asthenia, odynophagia, low grade fever, worsening symptoms of chronic depression, and symmetric leg paresthesias. Investigations showed macrocytic anaemia, leucopenia, thrombocytopenia, high lactate dehydrogenase levels and a normal Coombs test. Trilineage dysplasia was detected in the bone marrow biopsy specimen. The diagnostic work-up led us to the diagnosis of pernicious anaemia with a spuriously normal value of vitamin B12 and high titres of anti-intrinsic factor autoantibodies. This case highlights the importance of considering vitamin B12 deficiency in the differential diagnosis of myelodysplasia, even when vitamin B12 levels seem to be normal.

  • Diogo Paixão Marques, Joana Carvalho, Sara Rocha, Raquel Domingos

    Fungal infections caused by Paecilomyces species are rare. Although most cases of human infection occur in immunocompromised patients, this species is also being increasingly recognized as a pathogen in immunocompetent individuals. Paecilomyces variotii and P. lilacinus are the most common pathogens in humans. P. variotii infection usually manifests as peritonitis, pneumonia or endophthalmitis. We present the case of an 84-year-old immunocompromised patient with interstitial lung disease, who developed pulmonary mycetoma with isolation of P. variotii in bronchoalveolar lavage fluid culture. We found one similar case in the literature, but Paecilomyces species was not identified. Therefore, this is the first described case of pulmonary mycetoma caused by P. variotii.

  • Vânia Rodrigues, Tiago Gomes, Adriana Santos Silva, Rita Rocha, Ana Ferrão

    Platypnoea-orthodeoxia syndrome (POS) is an uncommon clinical entity characterized by dyspnoea and hypoxaemia induced by upright posture and relieved by recumbence. It is often associated with right-to-left shunting through a patent foramen ovale (PFO) or an atrial septal defect. We report the case of a 79-year-old woman with hypoxaemia initially attributed to a pulmonary infection but persisting after successful treatment. Being in the upright position triggered the hypoxaemia. A thoracic CT angiogram and ventilation/perfusion lung scan excluded a pulmonary embolism, but a transoesophageal echocardiogram with a bubble test showed a PFO with a right-to-left shunt, without pulmonary hypertension. The patient underwent percutaneous closure of the PFO which led to prompt symptom relief and full functional recovery.