• Joana Alves Vaz, Lilia Frada, Maria Manuela Soares, Alberto Mello e Silva

    POEMS syndrome is a rare paraneoplastic condition associated with polyneuropathy, organomegaly, monoclonal gammopathy, endocrine and skin changes. We report a case of a man with Castleman disease and monoclonal gammopathy, with a history of chronic diarrhoea and asthenia. Gastrointestinal involvement in POEMS syndrome is not frequently referred to in the literature and its physiopathology is not fully understood. Diagnostic criteria were met during hospitalization but considering the patient’s overall health condition, therapeutic options were limited. Current treatment for POEMS syndrome depends on the management of the underlying plasma cell disorder. This report outlines the importance of a thorough review of systems and a physical examination to allow an attempted diagnosis and appropriate treatment.

  • Luis D'Marco, Carlos Soto, Fabiola Dapena

    Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by calcification of elastic fibres, skin lesions, fundus lesions and systemic vascular complications. PXE affects approximately 1 in 160,000 people, typically appearing as a formation of yellow papules containing abnormally calcified elastic fibres. The renal involvement of PXE has been reported. Several factors are known to promote soft tissue and accelerated arterial calcification in chronic kidney disease, including systemic inflammation, altered calcium and phosphate homeostasis, hypertension and a deficiency of endogenous calcification inhibitors. Given the impact of this disease, nephrologists may seek additional supportive features to improve and avoid the risk of complications. Moreover, PXE per se represents an interesting model to evaluate vascular disease in the early stages of renal disease.

  • Sherif Monib, Bassem Amr

    Penile strangulation is a rare clinical entity which if left untreated can cause serious urogenital problems. We present the case of 45-year-old male patient who presented with penile strangulation after applying a metallic ring. Strangulation of the external male genitalia is a serious problem that requires urgent intervention in order to avoid serious complications. If left untreated, it can result in gangrene and penile amputation. Management of penile strangulation is a real challenge for the treating surgeon and should be treated as an emergency in order to avoid vascular compromise.

  • Dimitra Koumaki, Vasiliki Koumaki, George Bertsias, Eleni Lagoudaki, George Bertsias

    Objectives: Baricitinib is an orally active Janus kinase (JAK) inhibitor used in the treatment of moderate to severe rheumatoid arthritis (RA).
    Materials and methods: Here, we report the case of a 56-year-old Caucasian male diagnosed with RA who developed palmoplantar pustulosis (PPP) while being treated with baricitinib.
    Results: The patient’s PPP resolved after discontinuation of baricitinib and recurred when this was restarted. Based on causality assessment, it was considered a drug-induced PPP. Conclusion: To the authors’ knowledge, this is the first case of baricitinib-induced PPP.

  • Mariana Gravato Guerra, Gonçalo Silva, Daniela Marado, Jorge Fortuna, Armando Carvalho

    Hemichorea is a rare clinical manifestation of type 2 diabetes (DMT2). The patient presents with non-ketotic hyperglycemia, hemichorea (characterized by rapid and involuntary movements of a specific part of the body) and the CT imaging reveals the presence of alterations involving the ganglia of the base.

  • Elena Lopez-Francos, Sammy Place, Daphnee Delplace, Frédéric Vandergheynst

    We describe a 66-year old patient with a recurrent ulcer on her right ankle. Biopsy revealed medium-vessel vasculitis consistent with cutaneous polyarteritis nodosa. There were no signs or symptoms suggestive of systemic vasculitis, but a 18FDG-PET scan showed areas of increased uptake around the large arteries and the pelvic and shoulder girdles. These findings suggested polymyalgia rheumatica in the setting of large-vessel vasculitis. This case thus supports the statement from the Chapel-Hill consensus conference that classification of systemic vasculitis by vessel size is based on the vessels predominantly involved, but vessels of other sizes may also be affected.

  • Ana Catarina Dionísio, Ricardo Gomes, Eduardo Cernadas, Isabel Caballero, José Proença, Didia Lages, Leopoldina Vicente

    Cystic lymphangioma mainly occurs in children and develops from the lymphatic vessels. The present study reports the case of a 36-year-old female patient with a giant cystic mediastinal lymphangioma. She was asymptomatic and the diagnosis was accidental. Imaging studies are important for referral to the Cardio-Thoracic Surgery Department for surgical intervention in order to remove the lesion. It is important that in the case of an enlargement of the mediastinum observed in a thoracic X-ray, the possible diagnosis takes into consideration various hypotheses. Early diagnosis may prevent further growth and infiltration of structures that hinder the surgical approach.

  • Anna Ursula Marchetti, Oliver Louis Boss, Carla Michelle Schenker, Kaspar Kälin

    A 20-year-old Swiss male presented at the emergency department with acute onset of febrile temperatures and hemoptysis and a 3-month history of productive cough. An X-ray and CT scan of the chest, sputum samples for acid-fast bacilli, polymerase chain reaction(PCR), and cultures for Mycobacteria revealed pulmonary infection with Mycobacterium tuberculosis. None of the classical risk factors for tuberculosis were present, but the patient reported regularly smoking a water pipe. Water-pipe smoking poses a serious risk of M. tuberculosis transmission.

  • Adeel Nasrullah, Anam Javed, Usman Tariq, Meilin Young, Zunera Moeen, Marvin Balaan

    Infectious purpura fulminans (PF) is a rare presentation of disseminated intravascular coagulopathy (DIC) due to diffuse intravascular thrombosis and haemorrhagic infarction of the skin. PF can present in infancy/childhood or adulthood and usually presents as ecchymotic skin lesions, fever and hypotension. It is most commonly a consequence of sepsis related to Neisseria meningitidis, Streptococcus pneumoniae or Haemophilus influenzae. Despite aggressive management of sepsis with intravenous fluids, antibiotics, and conventional and nonconventional therapies, the condition still carries a mortality rate of 43%[1]. Streptococcus pneumoniae mostly presents with community-acquired pneumonia. We present a case of PF secondary to DIC related to Pneumococcal sepsis in an otherwise healthy and immunocompetent patient.

  • Ricardo Paquete Oliveira, Mafalda Teixeira, Sofia Cochito, Ana Furtado, Bruno Grima, José Delgado Alves

    Meningitis is a very uncommon complication of spinal anesthesia, and drug-induced aseptic meningitis (DIAM) is even rarer. We present two cases of DIAM following spinal anesthesia with bupivacaine and ropivacaine, respectively. The patients presented shortly after the procedure with typical meningitis symptoms. Since CSF (cerebrospinal fluid) analysis could not initially exclude bacterial meningitis, they were started on empirical antibiotics.
    CSF was subsequently found to be negative for viruses and bacteria in both cases, and antibiotics were promptly stopped. Both patients improved rapidly and without neurological sequelae. While it remains a diagnosis of exclusion, it is important to be aware of DIAM as recognition of the condition can lead to shorter admission times and avoid unnecessary use of antibiotics.

  • Bárbara Pedro, Liliana Alves, Rita Magano, Tomás Nunes, Nuno Marques

    Tuberculosis (TB) is one of the top 10 causes of death worldwide. Multidrug-resistant tuberculosis (MDR-TB) occurs when at the minimum there is resistance to isoniazid and rifampin. Prevention of new infections of Mycobacterium tuberculosis and progression to TB disease is critical to reduce the burden and mortality of this disease. We present the case of a 73-year-old human immunodeficiency virus (HIV)-negative female who presented with cervical lymphadenopathy and who was diagnosed with MDR-TB.

  • Manuel de la Torre-Aláez, Mercedes Iñarrairaegui

    Autoimmune hepatitis (AIH) was the first liver disease for which an effective therapeutic intervention was carried out, using prednisolone; its usefulness was demonstrated in several clinical trials. Nevertheless, AIH still remains a difficult diagnosis in some cases, because it is necessary to dismiss other possible diagnoses, and perhaps due to it being a heterogeneous disease. The relationship between drug-induced liver injury (DILI) and AIH is complex and not fully understood. There are three possible scenarios: (1) DILI with a strong immunoallergic component mimicking AIH; (2) AIH mimicking a DILI due to drug exposure and (3) AIH triggered by exposure to an offending drug (drug-induced AIH). Drug-induced AIH is well described and documented for some drugs such as nitrofurantoin and minocycline. Histologically distinguishing DILI from AIH remains a challenge. We present an interesting case report which met serologic criteria and histological confirmation to establish AIH, but discontinuation of a suspected drug resolved hypertransaminasaemia.

  • Rui Marques Osório, Sérgio Pina, Teresa Salero, Margarida Viana Coelho, Domingos Sousa, Catarina Mendonça

    Autoimmune diseases (AID) have been associated with a variety of lymphoproliferative disorders. Multiple myeloma (MM), one of the most common haematologic malignancies characterized by clonal proliferation of bone marrow plasma cells, has been associated with a range of autoimmune disorders. In this report, we described a case study of a patient admitted to our Internal Medicine Department for a bone marrow biopsy and myelogram due to a monoclonal peak observed by his general practitioner. However, at admission he presented typical giant cell arteritis (GCA) complaints, suggesting the coexistence of both diseases. The possible pathogenesis, as found in the literature, explaining the association will be discussed.

  • Elsa Carina Alves Araújo, Manuel Barbosa, Raquel Costa, Bárbara Sousa, Vítor Costa

    Cutaneous metastasis has a frequency of 1 to 10% among all metastatic cancer forms and breast cancer accounts for 30% of all cases. We report the case of a 73-year-old woman who presented with 4 skin lesions distributed across the upper trunk and abdomen; these had developed over a period of 12 months. Over the previous 6 months she had also developed anorexia, asthenia and weight loss. Upon investigation, a nodular mass was found in the left breast. Skin and breast mass biopsy were performed. Histology confirmed the diagnosis: infiltrating lobular breast cancer with cutaneous metastasis. The patient underwent hormonal treatment, mastectomy and radiotherapy.
    In rare cases, cutaneous metastasis appears as the first clinical manifestation of breast cancer. It is therefore crucial for patients and health professionals alike to be aware of new skin lesions. Cutaneous metastasis is a diagnostic sign of cancer that, it must be emphasised, is not restricted exclusively to later forms of the disease.

  • Lisette Florence van Dam, Lucia J.M. Kroft, Charlotte E.A. Dronkers, Jan van Schaik, Guido R. van Haren, Menno V. Huisman, Frederikus A. Klok

    A 43-year-old man complaining of abdominal angina for several months showed a large suprarenal aneurysm of the abdominal aorta with extensive circumferential wall thrombosis, complete occlusion of the right renal artery and a critically stenosed left renal artery on CT angiography. He suffered from severe hypertension and renal failure. A percutaneous transluminal angioplasty (PTA) was planned. After the PTA procedure, which was complicated by the development of left renal artery occlusion, successful rescue revascularization surgery was performed. Since we were hesitant to start anticoagulant treatment because of a high bleeding risk, magnetic resonance direct thrombus imaging was performed to assess the age of the extensive arterial thrombosis. The aortic thrombus showed a low signal intensity, which is indicative of chronic rather than acute thrombosis. Therefore, oral anticoagulant treatment was not started. The patient recovered without major complications.

  • Carolina Cavalcanti Gonçalves Ferreira, Deborah de Sá Pereira Belfort, Paulo Miranda Cavalcante Neto, Pedro Alves da Cruz Gouveia

    Pulmonary hypertension (PH) can be related to several diseases, such as connective tissue disorders and pulmonary embolism, or to drugs; it may also be idiopathic. Few cases have been reported demonstrating an association between ascorbic acid deficiency and reversible PH. We report the case of a patient who arrived at the emergency department with dyspnoea, tachycardia and lower limb perifollicular haemorrhage. Examinations, including a transthoracic echocardiogram, revealed enlarged right chambers and an estimated pulmonary artery systolic pressure of 61 mmHg. Further evaluation revealed poor food intake due to paranoid personality disorder, leading to ascorbic acid deficiency and manifestations of scurvy.

  • Joel Pinto, Paulo Almeida, Fani Ribeiro, Rita Simões

    Cardiopulmonary resuscitation-induced consciousness is a rarely described and often misunderstood phenomenon, although it can be encountered. High quality cardiopulmonary resuscitation (CPR) may lead a patient to recover consciousness while in cardiac arrest. The authors present the case of an 89-year-old male patient who received CPR after a cardiac arrest. Spontaneous movements during CPR were noted and prompted several CPR interruptions. These movements immediately stopped during chest compression pauses. Physical restraint was used in order to be able to continue with the CPR algorithm, but sedation may be the best approach. Guidelines on how to identify and manage these cases need to be developed.

  • Giacomo Oldoini, Giulia Ricci Frabattista, Maria Saragoni, Saverio Cosola, Enrica Giammarinaro, Anna Maria Genovesi, Simone Marconcini

    Chemotherapy usually causes complications affecting several tissues such as oral mucosa. In this case report, a soft palate oral ulcer caused by chemotherapy was treated by ozone gas. This kind of treatment is known for its antimicrobial, regenerative and analgesic proprieties. The results show a complete resolution of the lesion within 2 weeks of treatment. Ozone therapy demonstrates greater effectiveness with respect to this kind of oral lesion compared to traditional therapy. Considering this evidence, ozone therapy should be considered as a useful tool for the adjuvant therapy of oral complications in oncologic patients.

  • Dimitra Koumaki, Sotirios Boumpoucheropoulos, Vasiliki Koumaki, Alexander Katoulis, Georgia Pappas, Aikaterini Mantaka, Konstantinos Krasagakis

    Objectives: Agents targeting the epidermal growth factor receptor (EGFR)-mediated signalling pathway are increasingly being used for the treatment of advanced lung, pancreatic, colorectal and head and neck cancers.
    Case presentation: Here, we report the first case of eruptive seborrhoeic keratosis following panitumumab treatment, an anti-EGFR monoclonal antibody, in a 73-year-old patient with stage 4 (IV) colorectal cancer with hepatic metastasis.
    Conclusion: While panitumumab is an emerging therapy for RAS wild-type metastatic colorectal cancer, physicians should consider panitumumab as a potential cause of eruptive seborrhoeic keratosis.

  • Sara Mendonça Freitas, Joana Silva Marques, Ana Grilo, Rodolfo Gomes, Fernando Martos Gonçalves

    Behçet’s disease (BD) is a systemic vasculitis characterized by recurrent orogenital ulceration and several systemic manifestations (such as gastrointestinal involvement, vascular disease or arthritis). The pathogenesis is still unknown but the trigger role of certain pathogens such as Mycobacterium tuberculosis is well documented. Furthermore, patients with BD are more susceptible to tuberculosis due to immunity defects. Here, we describe the case of a 70-year-old woman with a history of recurrent oral aphthae and inflammatory arthritis presenting with extensive thrombosis of left upper limb major veins, a positive HLA B51 genotype and colon ulceration; hence, BD diagnosis was made after excluding other causes. Simultaneously, the patient had cutaneous abscesses not associated with immunosuppressive therapy with continuous development, and after recurrent negative tuberculosis work-up, M. tuberculosis was isolated in an abscess culture.

  • Fani Ribeiro, Mário Bibi, Marta Pereira, Sofia Ferreira, Helena Pessegueiro, Rui Araújo

    Heat stroke (HS) is a life-threatening condition characterized by hyperthermia and multiple organ failure. Mild to moderate hepatocellular injury is a well-documented complication but severe liver injury and acute liver failure are rare. There are neither established criteria nor optimal timing for liver transplantation and conservative management seems to be the cornerstone treatment. The authors report a case of a patient with severe liver injury related to HS who recovered completely under conservative treatment.

  • Ali Ibrahim Rahil, Ahmed Osman, Mohamed Magdi Mohamed Eid, Sara Kanbour, Ahmed Mahfouz

    Thrombotic disease represents a rare manifestation of leprosy. In this study, we report the case of an external jugular vein thrombosis associated with tuberculoid leprosy in a 23-year-old male patient. The patient presented with a 3-month history of painful cord-like swelling on the left side of the neck and a nearly 3-week history of skin lesions on the left cheek and right leg. Physical examination revealed cord-like, tender swelling on the left lateral aspect of the neck overlying the sternocleidomastoid muscle, and a hypopigmented, hypoaesthetic 6×7 cm lesion with an irregular margin on the left cheek. A Doppler ultrasound examination of the jugular vein showed thrombosis of the left external jugular vein. Three-dimensional reconstruction of the computed tomography scan showed the enlarged and enhanced left external jugular vein, as well as 1 of its tributaries, and the thickened skin patch. A skin punch biopsy from the left cheek lesion revealed granulomatous inflammation with occasional peri-adnexal granulomas, consistent with the clinical impression of tuberculoid leprosy. A diagnosis of leprosy with external jugular vein thrombosis was established. Anticoagulation therapy was initiated, and the patient was referred to an infectious disease clinic for treatment with anti-leprosy medications.

  • Aurore Moussiegt, Luis Ferreira, Jérome Aboab, Daniel Silva

    Background: Copper is an essential trace element of the human body. However, it is related to many diseases. Copper intoxication is not common in Western countries, but needs to be rapidly recognised because of its high lethality.
    Case presentation: We report the case of a 40-year-old woman who presented to the emergency department after performing intrarectal administration of a blue powder sent from Cameroon by her family, in the belief that this would help her to get pregnant. Her evolution was complicated by multiorgan failure and the unusual circumstances. The diagnosis was suspected on the basis of the clinical presentation and the colour of the powder, and confirmed by blood dosage and toxicological analysis of the powder. She underwent symptomatic treatment, and the outcome was progressively favourable, apart from persistent chronic renal failure with dependence on dialysis.
    Conclusion: Copper intoxications are rare but severe. Laboratory diagnosis of the condition is not an issue; the difficulty is suspecting it and quickly initiating chelation treatment associated with symptomatic treatments.

  • Ana Filipa Pires, Teresa Martins Mendes, Ana Areia Reis, Ana Ferreira Pacheco, Vítor Fagundes, Mari Mesquita

    Introduction: Lumbar epidural anaesthesia is a commonly used technique for analgesia during labour. One of the rare complications of this technique is pneumocephalus.
    Case description: We report the case of a 35-year-old female admitted to the Emergency Department with severe headache associated with fast head movements. Five days previously she had a eutocic delivery and lumbar epidural anaesthesia was performed. A brain computed tomography (CT) scan showed pneumocephalus and she was admitted to the hospital ward. A brain CT scan on the fourth day of hospitalization showed resolution of ventricular pneumocephalus.
    Discussion: The most frequently occurring symptom with pneumocephalus is headache associated with fast brain motion resulting from air injection and meningeal irritation. When there is clinical suspicion of pneumocephalus, a brain CT scan should be performed for the diagnosis.

  • Monterrubio-Villar Jesús, Llinares-Moya David

    Brugada phenocopies (BrP) are clinical entities that present with an ECG pattern identical to either the type 1 or type 2 Brugada pattern without true congenital Brugada syndrome. This ECG pattern is associated with an identifiable condition and normalizes upon resolution or treatment of the underlying cause. We present a case of a 54-year-old man with extreme metabolic acidosis, hyperkalaemia and a Brugada type 1 ECG pattern in the setting of a suicidal methanol (MeOH) poisoning. Upon correction of these metabolic derangements with bicarbonate infusions and continuous veno-venous haemodiafiltration (CVVH), the Brugada type 1 ECG pattern normalized. Unfortunately, the patient developed signs of cerebral herniation followed by brain death and died on the first day of ICU admission.

  • Sonia Canadas, Rita Fernandes, Hugo Almeida, João Santiago Correia

    Cystic mesotheliomas (also called mesothelial inclusion cysts) are rare benign neoplasms that occur more often in young women. Symptoms are usually non-specific, demanding a thorough work-up. We report a case of a 40-year-old female patient with 2 prior caesarean sections presenting with a 3-month history of abdominal pain. Laboratory tests revealed microcytic hypochromic anaemia and an elevated tumour marker CA-125. An investigation identified a large cystic abdominal mass, mostly in the left side of the abdomen. A laparotomy was performed with total resection of the lesion. Histological assessment resulted in a diagnosis of a mesothelial inclusion cyst. The patient had no recurrence after 3 years.

  • Hélio Martins, Joana Mendonça, David Paiva, Carlos Fernandes, Jorge Cotter

    A 55 years-old Caucasian male presented initially in the emergency room reporting myalgia, chills and fever. Physical exam and laboratory tests were unremarkable and he was discharged with symptomatic care. He returned to our ER two weeks later reporting dizziness, loss of balance, blurred vision, mild dysarthria and bilateral hand paresthesia. On examination he presented complete bilateral ophthalmoplegia, mild dysarthria, left finger-to-nose dysmetria, ataxia, areflexia and bilateral hand hypoesthesia without fever. Blood tests and head computed tomography were normal. The patient was admitted to the Internal Medicine department. On second day inwards the patient presented dysphagia. Head magnetic resonance angiogram showed no signs of ischemia or vascular disease and a lumbar puncture was performed but no pleocytosis, albumin-cytological dissociation or hypoglycorrhachia was present. Despite the normal results we suspected of a Guillain–Barré syndrome variant, and started treatment with intravenous immunoglobulin (IVIG) in a dose of 400mg per kilogram and continued for five days with immediate neurological improvement. We present a rare overlapping case of Miller Fisher syndrome and Pharyngeal-Cervical-Brachial variant of Guillain–Barré syndrome.