LATEST ONLINE

LATEST ONLINE
  • Ana Sá, Teresa Pimentel, Narciso Oliveira

    An 87-year-old man was admitted with a 2-week history of asthenia, anorexia and jaundice. Blood tests showed increased serum liver enzymes. The aetiological study was inconclusive. The patient had a favourable clinical evolution during hospitalization with supportive care. His wife revealed that the patient had repeatedly consumed infusions of Peumus boldus (commonly known as boldo) leaves during the previous month. After common causes of hepatobiliary pathology were excluded, boldo-induced hepatotoxicity was considered probable. Cessation of its consumption led to complete clinical and laboratory recovery within a week.

  • Krishna Nareshkumar Patel, Muhammad Hussein, Amir Khalil, Najeeb Rehman, Hazim Mahdi, Muhammad Jamil Malik, Salim P L Meghjee

    A 53-year-old woman presented during the SARS-CoV-2 pandemic with an 18-day history of pyrexia, myalgia, progressive dyspnoea and loss of taste and smell after a close contact had tested positive for SARS-CoV-2. In this period two swabs had been negative for SARS-CoV-2. Clinical examination was normal. During this admission a third SARS-CoV-2 swab was negative, and investigations showed mildly elevated inflammatory markers, mildly deranged liver function, atypical lymphocytes on a blood film and a normal chest x-ray. Her Epstein–Barr virus serology was positive and thus the diagnosis was infectious mononucleosis.

  • Carolina Amado, Pedro Gonçalo Ferreira

    Pleuroparenchymal fibroelastosis (PPFE) is a relatively rare interstitial lung disease (ILD) consisting of elastofibrosis involving the subpleural parenchyma and visceral pleura with an upper lobe predominance. It can be idiopathic or associated with some forms of autoimmune disease. The authors describe the case of a 78-year-old woman with a previous diagnosis of Crohn’s disease (CD). She presented with a protracted respiratory infection (with no significant history of previous infections), and underwent high-resolution chest computerized tomography that eventually showed alterations compatible with PPFE. After exclusion of other possible underlying causes, a possible link to CD was considered. Follow-up investigation at 12 months showed clinical and radiological stability and also stable lung function under treatment with hydroxychloroquine and prednisolone. This is the first report of PPFE in the context of CD. Future studies will be important to further investigate this pathological association and its prognostic implications.

  • Dimitra Koumaki, Vasiliki Koumaki, Alexander Katoulis, Sotirios Boumpoucheropoulos, George Evangelou, Maria Stefanidou, Konstantinos Krasagakis

    Trimebutine is a spasmolytic agent with antimuscarinic effects that is used for the treatment of irritable bowel syndrome (IBS) and lower gastrointestinal tract motility disorders. Lichenoid drug eruptions (LDE) to trimebutine maleate have not been previously reported. Here we present the case of a 50-year-old male patient who developed an extensive lichenoid eruption on his upper and lower extremities and trunk 4 weeks after starting treatment with trimebutine maleate 300 mg once daily for IBS. Two months after discontinuation of the drug and administration of topical treatment with emollients and corticosteroids, the LDE cleared completely with no recurrence. The diagnosis of LDE due to trimebutine was made, based upon the clinical features resembling lichen planus, the histological findings of interface dermatitis, the evidence of a temporal relationship between drug intake and the development of skin lesions, and resolution upon discontinuation of the drug. To the best of the authors’ knowledge, LDE following trimebutine maleate intake has not been previously reported. Management of trimebutine-induced LDE includes withdrawal of the causative agent and treatment with potent topical corticosteroids.

  • Jorge Miguel Bastos Mendes, João Filipe Ferreira Gomes, Lurdes Rovisco Branquinho, Catarina Oliveira Carvalho, Patrícia Filipa Afonso Pais Pacheco Mendes, João Luís Carvalho Madaleno

    Introduction: Chest pain is a very frequent reason for seeking medical care. When there is no obvious cause, patients are sometimes subjected to tests and treatments that may be unnecessary and potentially harmful. Mondor's disease is a rare but usually benign and self-limited entity characterized by thrombophlebitis in a specific region.

    Case report: We report the clinical case of a 51-year-old man admitted to the emergency department with a 24-hour history of left chest pain with no other symptoms. Physical examination revealed a palpable subcutaneous cord-like structure that ultrasound confirmed to be thrombophlebitis of a superficial vein in the mammary region. Secondary causes were ruled out, and the condition resolved with ibuprofen and the application of local ice.

    Discussion: Mondor’s disease can be associated with neoplasms, trauma or hyperviscosity states, but it is mostly idiopathic. Usually, it resolves completely in 4–8 weeks without specific treatment. Because this infrequent diagnosis mainly relies on clinical findings, it is important that clinicians can recognize the syndrome.

  • Mohamed Reda Belkhribchia, Sara Moukhlis, Tarik Bentaoune, Najat Chourkani, Mohamed Zaidani, Mehdi Karkouri

    Monoclonal gammopathies due to plasma cell dyscrasias can cause various rare neuromuscular disorders. The peripheral nervous system is most commonly affected, while muscle diseases associated with monoclonal gammopathies are rare. Skeletal myopathy, as a manifestation in the context of multiple myeloma, is extremely uncommon and is usually the result of immunoglobulin light chain (AL) amyloidosis deposits in the muscles. Here we present an atypical case of a patient with generalized myopathy as the presenting manifestation of light chain multiple myeloma. Interestingly, muscle involvement in our case was not the consequence of AL amyloidosis deposits but rather due to non-amyloid light chain deposition disease associated with light chain multiple myeloma.

  • Oumniya Abouhanine, Aicha Merzem, Vianney Ndayishimiye, Hasnaa Belgadir, Omar Amriss, Nadia Moussali, Naima El Benna

    Introduction: Epidermoid cysts of the temporal bone are rare, benign and slow-growing lesions.

    Patient and Methods: We report the case of a 69-year-old female patient followed up for a symptomatic intradiploic epidermoid cyst of the temporal scale and left mastoid region, which had been operated on but recurred.

    Results: MRI demonstrated a well-limited lesion seen as a hyposignal on T1-weighted images, hypersignal on T2-weighted images, on FLAIR and on diffusion-weighted images not enhanced by gadolinium. The tumour was compressive, and bone lysis was seen on CT.

    Conclusion: Epidermoid cysts of the temporal bone are rare, benign lesions whose diagnosis is based on fluid signals seen on MRI but absent on FLAIR sequences.

  • Marcelo Aveiro, Tatiana Rodrigues, Tiago Rabadão, Filipa Ferreira, Mariana Teixeira, Ana Oliveira, Inês Vasconcelos

    Gastric antral vascular ectasia (GAVE) is a rare cause of upper gastrointestinal bleeding associated with cirrhosis. The first-line treatment is endoscopic therapy with argon plasma coagulation (APC). There is a high recurrence rate, but some evidence suggests that thalidomide could play an important role in controlling refractory anaemia due to GAVE. The authors present the case of a cirrhotic patient with a recent diagnosis of GAVE, who underwent multiple endoscopic treatments and blood transfusions because of haematemesis. The patient started thalidomide and 6 months later, there was no recurrence of haematemesis and haemoglobin levels were stable, with no reported adverse effects.

  • Abir Derbel, Mariam Ghribi, Sameh Marzouk, Zouhir Bahloul

    The coexistence of two immune-mediated diseases in the same patient is unusual. Takayasu’s arteritis (TA), which is a chronic granulomatous vasculitis, was discovered in a 47-year-old woman followed for tubulointerstitial nephritis and uveitis syndrome (TINU syndrome). We present the first case of this association.

  • Lucio Marinelli, Laura Mori, Chiara Avanti, Filippo Cotellessa, Sabrina Fabbri, Cristina Schenone, Carlo Trompetto

    Background and objectives: One of the most feared complications of COVID-19 is respiratory failure caused by acute respiratory distress syndrome. In order to improve oxygenation and survival, patients admitted to intensive care units and intubated may undergo prone position mechanical ventilation. Prolonged prone positioning may cause meralgia paraesthetica due to lateral femoral cutaneous nerve entrapment between the inguinal ligament and the anterior superior iliac spine. Reports of the first two cases have been recently published.

    Case presentation: We describe the case of a 52-year-old man with respiratory failure during COVID-19 infection, who underwent prone position ventilation for 16 hours a day over 19 days and developed persistent burning pain and dysaesthesia on the lateral surface of the thigh bilaterally, diagnosed as meralgia paraesthetica.

    Conclusion: This is the second report describing meralgia paraesthetica following prone position ventilation in COVID-19. Given the ongoing pandemic and the inevitability of more patients with severe respiratory distress requiring prone position ventilation, this disabling entrapment condition should be considered and possibly prevented.

  • Maria João Correia, Luciana Frade, Renato Guerreiro, Inês Araujo, Teresa Baptista, Cândida Fonseca, Kamal Mansinho

    Coronavirus infection, known as COVID-19, is characterized by clinical, epidemiological and biological features similar to those of malaria. In each case, fever, myalgia, fatigue, headaches and gastrointestinal symptoms may be present. Both diseases can also induce a cytokine storm and pro-coagulant states. An appropriate epidemiological approach and differential diagnosis are very important so that the right clinical intervention can be selected.
    Malaria remains a serious global public health issue, especially in endemic countries. Elimination campaigns are helping to control the disease, but in many countries these programs are now at risk of failure due to logistic and economic problems caused by COVID-19.
    The authors describe the case of a patient with co-infection with malaria and COVID-19, reminding us that during this coronavirus pandemic it is critical to consider other diagnoses, particularly in people traveling between countries.

  • Ali Hamza Khair, Aimen Asim Dar, Abu Baker Sheikh, Aamir Iftikhar Malik

    Paraneoplastic pemphigus arising in association with non-haematological cancers is extremely rare, and there are no reported cases of a patient developing this in the setting of nasopharyngeal carcinoma and only 2 reported cases of patients developing this in response to radiotherapy. Here, we present the case of a patient who developed radiotherapy-associated paraneoplastic pemphigus in the setting of nasopharyngeal carcinoma and who then developed multiple complications.

  • Oumniya Abouhanine, Aicha Merzem, Vianney Ndayishimiye, Omar Amriss, Hasnaa Belgadir, Nadia Moussali, Naima El Benna

    Introduction: Chondrosarcoma is a tumour with a cartilaginous matrix frequently encountered in long bones and the pelvis with rare sinonasal location.
    Patient and methods: We report the case of a 25-year-old patient who was referred to us for an extension work-up for sinonasal chondrosarcoma confirmed by anatomopathological examination.
    Results: Facial magnetic resonance imaging (MRI) confirmed by a CT scan showed an osteolytic tumour process of the hard palate and walls of the left maxillary sinus that was locally advanced.
    Conclusion: The sinonasal location of a chondrosarcoma is rare. Characterized by cross-sectional imaging, confirmation was provided by histological assessment.

  • Anirudha S Rathnam , Anza B Memon

    Foix-Alajouanine syndrome is an arteriovenous malformation causing subacute congestive myelopathy that can lead to progressive paraplegia. It typically affects the lower thoracic and lumbosacral levels. Arteriovenous fistula (AVF) leads to increased venous pressure, decreasing the arteriovenous pressure gradient and leading to a decrease in spinal cord perfusion, oedema and necrosis. Early recognition and surgical intervention can result in a good prognosis.

  • Mihiro Kaga, Emi Yamashita, Takeshi Ueda

    Objectives: The aquarium sign is the name given to a large quantity of bubble-like echoes that suggests the presence of hepatic portal venous gas (HPVG). Few studies in the literature have addressed the relationship between the aquarium sign and HPVG. In some cases, HPVG can only be detected using ultrasonography. HPVG can be observed in a variety of conditions, including those that require emergency surgery, such as acute mesenteric ischaemia (AMI). Therefore, it is important to identify the presence of HPVG as soon as possible. 
    Materials and methods: We report a case of the aquarium sign, where bubble-like echoes flowed from the right atrium towards the right ventricle, which was identified using bedside cardiac ultrasonography as part of a point-of-care ultrasound test.
    Results: This aquarium sign finding led to the diagnosis of AMI, which was confirmed using contrast-enhanced computed tomography (CT). 
    Conclusion: The aquarium sign is a useful finding suggestive of HPVG and mesenteric ischaemia, which can be rapidly and easily observed using bedside cardiac ultrasonography. However, there are very few reports on the aquarium sign. The inability of other more cumbersome diagnostic imaging modalities, such as CT and magnetic resonance imaging, to detect HPVG emphasizes the utility and convenience of detecting the aquarium sign using bedside ultrasonography. This technique can lead to early detection of life-threatening diseases as well as improve the prognosis for patients. The diagnostic implications of the aquarium sign for HPVG are still unclear and require further research.

  • Aamir Shahzad, Adeel Ahmad Khan, Muhammad Awais Arif, Zohaib Yousaf

    Introduction: Exertional heat illness (EHI) is common in hot weather among young athletes, outdoor manual workers and military personnel. EHI can involve multiple organs of the body, including the muscles, kidneys and brain; however, myocardium involvement is infrequent.
    Materials and methods: We present the case of a 26-year-old male construction worker who worked outdoors in a hot arid environment. He presented with acute kidney injury and rhabdomyolysis and was diagnosed with EHI. During his hospital stay, he developed complete heart block, and cardiac MRI showed features of myocarditis. Work-up to identify other aetiologies of myocarditis was normal. This case highlights the effects of EHI on the myocardium.
    Conclusion: It is important to keep in mind the various effects of EHI on the myocardium. Myocarditis due to EHI is rare, and conduction defects resulting from it might persist, necessitating specialist intervention.

  • Ana Gorgulho, Maria Margarida Andrade, Ana Paula Antunes, Inês Nabais, Filipa Taborda, Marta Dias Ramos, Ana Maria Grilo

    As the numbers of SARS-CoV-2 infections increased globally, reports of cutaneous manifestations started to emerge. We describe several patients with COVID-19 who presented with skin changes. We noted such manifestations in four out of 110 patients (3.63%) and describe the clinical situation of each of these patients. Each patient had either a maculopapular or a urticariform rash. These manifestations have a broad differential diagnosis and it was difficult to exclude drug reactions. We hope to raise awareness of this possible manifestation of COVID-19 in order to raise suspicion of this diagnosis among clinicians when they encounter patients with fever and rash. Larger series that also include patients with mild disease and skin biopsies may be useful.

  • Christopher Balfe, Cormac O'Connor, Gerard Giblin, Kevin Walsh, Ivan Casserly, David Moore, Vincent Maher

    This case report describes a young female Caucasian patient with newly presenting severe mitral stenosis at the peak of the coronavirus pandemic in the Republic of Ireland.
    The initial presumptive diagnosis was of severe coronavirus illness. This case report highlights the importance of keeping an open mind to alternative diagnoses and examines some of the challenges in the diagnosis and management of a rare condition in the pandemic environment.
    This patient gained 10 kg of weight within 6 weeks of percutaneous balloon mitral valvuloplasty, highlighting the contribution of cardiac cachexia to her low body weight and demonstrating the exceptional benefit that this treatment can offer to patients.

  • Carolina Amado, Gisela Ferreira, Fernando Silva, Mariana Silva Leal, Margarida Cruz

    Bendamustine is a chemotherapeutic drug associated with frequent haematological and gastrointestinal adverse effects and, more rarely, neurological toxicity.
    We present the case of a 79-year-old man with follicular lymphoma, grade 2, Ann-Arbor stage IV-A, FLIPI 4, high risk, with bulky disease and vital organ compression, treated with R-CHOP and then rituximab-bendamustine, who developed encephalopathy approximately 2 months after the last cycle. After ruling out other possible aetiologies, we assumed the patient’s encephalopathy was due to a delayed bendamustine side effect, possibly aggravated by the concomitant administration of rituximab.
    The authors hope to alert clinicians to this rare adverse effect, its difficult identification and the need to rule out other aetiologies.

  • Antón FR Gameiro, António Robalo Nunes, Paula Guerra, Estela Mateus, Fátima Fernandes

    Portal vein thrombosis (PVT) is an uncommon finding in patients without cirrhosis. The underlying aetiology is challenging and the condition has a wide differential diagnosis. We present a case of PVT in an anaemic patient with chronic iron and folic acid deficiency masking underlying polycythemia vera (PV). Only a careful review of the patient’s clinical history allowed the identification of a short period of laboratory erythrocytosis, 6 months before the clinical onset of PVT, while the patient was on iron and folic acid supplementation. The finding raised clinical suspicion of PV previously masked by iron deficiency anaemia. Subsequent investigation confirmed the presence of the JAK2 V617F mutation and, ultimately, showed that the patient met all diagnostic criteria for PV. Myeloproliferative disorders (MPD) are associated with systemic prothrombotic states. PV is distinguished clinically from other MPD by the presence of increased red blood cell mass. Moreover, patients with abnormal haematocrit values in the pre-JAK2 V617F era may have had occult or latent PV. Diagnosis confirmation requires a combination of major and minor criteria to capture occasional cases of occult PV. This case emphasizes the importance of always considering MPD in the aetiological investigation of PVT, even in patients who apparently do not fulfil the diagnostic criteria.

  • Marta Carreira, Joana Pimenta

    Gastrointestinal duplications are rare congenital anomalies usually found incidentally in asymptomatic adult patients. We report a case of methicillin-resistant Staphylococcus aureus and Candida albicans secondary bloodstream co-infection in a 57-year-old male patient with a communicating tubular oesophageal duplication. The patient completed 21 days of medical treatment with vancomycin and anidulafungin and remained well without any complications, over 2 years of follow-up.

  • Alba Bergas, Francesc Escrihuela-Vidal, Davinia Fernández Calvo, Olga Capdevila Pons, Xavier Corbella

    Spontaneous haemothorax (SH) is a rare subcategory of haemothorax that involves the accumulation of blood within the pleural space in the absence of trauma. SH especially occurs in middle-aged or elderly patients, but data are usually limited to case reports and case series. Coagulopathy, aneurysm or aortic dissection, Rendu-Osler-Weber syndrome and malignancy have to be considered among the causes of SH.
    Aim: We describe a case of primary angiosarcoma of the spleen presenting as relapsing haemothorax.
    Results: An 81-year-old woman was referred to our hospital because of a 2-month history of relapsing haemothorax after the performance of urgent splenectomy due to active bleeding from large spleen cysts. No evidence of neoplasm was seen after pathological examination of the spleen. On admission, left haemothorax and 2 new cystic masses in the thoracic wall were documented, both in close relation to the scars of previous surgery and chest tubes. After excision of 1 mass, histological examination revealed angiosarcoma, and a final diagnosis of primary angiosarcoma of the spleen with postsurgical metastatic dissemination to the thorax and pleura was made.
    Conclusion: Primary angiosarcoma should be included in the differential diagnosis of haemorrhagic spleen cysts. Clinical diagnosis and management usually requires splenectomy, but it should be carefully planned in order to avoid local metastatic dissemination or haematogenous spread of the tumour.

  • Murtaza Hussain, Smit S Deliwala, Anoosha Ponnapalli, Viraj Modi, Ashok Kanagula, Mamoon M Elbedawi, Ghassan Bachuwa

    Acute pancreatitis (AP) remains one of the most common causes of emergency department visits in the USA. The literature supports an association between angiotensin-converting enzyme inhibitors (ACEi), mainly at steady-state doses, and AP. We present a case of recurrent AP and pseudocyst formation following multiple ACEi dose adjustments after a steady-state period lasting for over a decade. Previous reports have rarely described ACEi-induced pancreatitis and pseudocyst development. ACEi can cause significant ductal obstruction and fluid retention due to its angioedema effects. Consequently, it may trigger AP complicated by pseudocyst formation. Therefore, ACEi administration must be considered in the appropriate clinical context.

  • Van Trung Hoang, Hoang Anh Thi Van, Hoang Quan Nguyen, Ngoc Trinh Thi Pham, Minh Tri Thi Vo, Vichit Chansomphou, Cong Thao Trinh

    Intracranial neurenteric cysts are rare congenital lesions that can be mistaken for other lesions. They may contain mucous or serous glands, smooth muscle, lymphoid tissue and components of connective tissue. We report a case of neurenteric cyst which was detected accidentally by diagnostic imaging in the context of a thalamus infarct in a 45-year-old woman. We also discuss the results of a brief literature review and the pathological findings, imaging spectrum, evaluation and management of neurenteric cysts and thalamic infarctions.

  • Giorgia Protti, Fabrizio Elia, Francesca Bosco, Franco Aprà

    Among thrombophilic risk factors for deep venous thrombosis (DVT), agenesis of the inferior vena cava (AIVC) is very rare, but it must be considered in specific settings. Here, we present the case of an 18-year-old woman who was admitted to the Emergency Department with swelling and pain of her left leg. Clinical examination and ultrasonography detected extensive proximal DVT of the left leg. After attempted mechanical thrombectomy failed, an abdominal CT scan was obtained, which demonstrated bilateral thrombosis of the iliac-femoral axis in the context of congenital AIVC.

  • Cátia Castanheira Figueiredo, Carla Sofia Rebelo, Joana Lemos

    Background: Ischaemic stroke can be classified according to its aetiology. In cryptogenic stroke, Lambl’s excrescences should be considered since they can only be detected through transesophageal echocardiography (TEE), which is not routinely performed.
    Case description: The authors report the case of a 63-year-old Caucasian man with two ischaemic cerebral events associated with the presence of Lambl’s excrescences in the aortic valve detected with TEE. Switching antiaggregant therapy to anticoagulant therapy allowed the patient to remain asymptomatic throughout a 3-year follow-up.
    Conclusion: The lack of protocols for the management of cryptogenic stroke results in a delay in the identification of less frequent causes of stroke, leading to recurrent vascular events, morbidity and loss of functionality. The authors describe a patient who experienced multiple cerebral ischaemic events until the correct diagnosis was made.

  • Paul Chabert, Hatem Kallel

    We present the case of a 25-year-old woman without medical history, presenting with acute respiratory failure needing mechanical ventilation. Aetiologic screening showed PVB19 primary infection and concomitant SLE flare-up. We discuss the causative interactions between PVB19 and SLE in the pathogenesis of the disease. Difficulty diagnosing inaugural SLE flare-up concomitant with PVB19 infection can lead to delayed diagnosis and treatment. Inversely, overtreating a SLE-mimicking PVB19 infection with immunosuppressive agents can be highly detrimental.

  • Matilda Florentin, Ioannis Parthymos, Aris Agouridis, George Liamis

    Hyperemesis gravidarum (HG) is a complication mainly of the first trimester of pregnancy, which sometimes leads to metabolic disorders such as hypovolemia and acute kidney injury (AKI). Herein, we present the case of a 25-year-old woman at week 10 of gestation who exhibited a constellation ofsevere abnormalities, namely AKI (serum creatinine 6.15 mg/dl), transaminasemia (serum aminotransferases >1,000 IU/l), alkalemia (arterial pH7.667), hyponatremia (serum sodium 117 mEq/l), hypochloremia (serum chloride 54 mEq/l),hypokalemia (serum potassium 2.2 mEq/l) and hyperuricemia (serum uric acid 20 mg/dl). Despite a thorough work-up, no other disorder was found apart from HG. All symptoms and metabolic abnormalities resolved with targeted administration of intravenous fluids. The differential diagnosis of these disorders and therapeutic challenges are discussed.

  • Teresa Gantes Padrão, Miguel Casimiro, Augusto Gaspar, Anabela Raimundo

    Inferior vena cava syndrome is rare and often difficult to diagnose because of its rarity and consequent low suspicion. 
    We describe the case of a 28-year-old female patient with a history of nephroblastoma of the right kidney, stage IV, with a favourable histology with epidural metastasis (D5-D9), diagnosed at 3 years of age. The patient underwent treatment with surgery, chemotherapy and radiotherapy.
    The patient suffered from sudden low back pain worsening over 2 weeks, with progressive inability to walk. The pain radiated to the front of the thighs. Concomitantly, oedema of the lower limbs with cephalocaudal progression was observed. At admission to our institution, the physical examination showed peripheral oedema, abdominal wall venous collaterals, an inability to walk due to low back pain in the supine position, with no neurological deficits. Lumbar MRI showed exuberant epidural venous congestion. The hypothesis of inferior vena cava thrombosis (IVCT) was considered and confirmed by angio-CT.
    IVCT is prevalent in patients with congenital anomalies of the inferior vena cava, occurring in approximately 60–80% of these cases, and most published series on inferior vena cava syndrome refer to thrombotic complications in this subgroup of patients. There are currently no guidelines defined or validated to guide the diagnosis and approach to IVCT. With this case, we would like to draw attention to a rare disease that should be suspected in all patients with inferior vena cava disease, whether resulting from congenital disease or after surgical procedures.

  • Arda Yavuz, Rabia Burçin Girgin, İlyas Tuncer

    Human immunodeficiency virus (HIV) is a worldwide disease with an increasing number of cases globally. Initially, HIV cholangiopathy was often observed among such patients but has become rare after three decades because of the availability of new treatment options and potent antiretroviral drugs. Consequently, its occurrence now suggests drug resistance or disease progression. The relationship between cholangiocarcinoma and HIV remains unclear. We report the case of a patient with high-grade dysplasia of the ductus choledochus and uncontrolled disease which was treated with potent antiviral agents and bile duct dilatation.

  • Omar Lasheen, Mohamed ElKorety

    Encapsulating peritoneal sclerosis (EPS), also known as abdominal cocoon syndrome (AC) or sclerosing encapsulating peritonitis (SEP), is an uncommon condition typically presenting with features of bowel obstruction. We present the case of a 41-year-old male patient who presented to the accident and emergency department with a 7-day history of abdominal pain. Contrast CT of the abdomen and pelvis was ordered and was suggestive of small bowel obstruction involving most of the small bowel with no apparent transition point. Laparotomy showed a tough whitish fibrous membrane encasing the entire length of the small bowel. Advances in CT have made diagnosis possible before a decision on surgical intervention is made.

  • Awatef Alotaibi, Ahmad Habib, Moutaz Osman, Khaled Alzahrani, Faisal Alzahrani

    Acromegaly is characterized by excess skin and soft tissue growth due to increased growth hormone (GH) levels. Patients with similar physical findings but without somatotroph axis abnormalities are considered to have pseudoacromegaly. The list of pseudoacromegaly differential diagnoses is long. It may be caused by several congenital and acquired conditions and diagnosis can be challenging due to its rarity and occasional overlapping of some of these conditions. The presence of a pituitary tumour in such cases may lead to a misdiagnosis of acromegaly, and thus, biochemical evaluation is key. Here, we present a case of pseudoacromegaly with an acromegaloid phenotype, normal IGF levels, a supressed GH response to an oral glucose tolerance test, moderate insulin resistance and non-functioning pituitary microadenoma.

  • Hanna Raisi, Thomas Longerich, Bernardo Moreira Assuncao, Sebastian Mueller, Peter Schirmacher, Helmut-Karl Seitz

    Objectives:To present a rare case of propofol-induced hepatitis.
    Materials and methods: A 59-year old man was referred to our department because of suspicion of toxic hepatitis after propofol anaesthesia for endoscopic colonoscopy. 
    Results: The patient had jaundice, increased transaminases demonstrating liver necrosis, and liver stiffness of 18 kPa. Liver biopsy revealed bridging necrosis and initial post-collapse fibrosis. Following therapy with steroids and N-acetyl cysteine, the patient was discharged on the seventh day after admission in good general condition.
    Conclusion: Although propofol is considered safe, it can cause acute hepatitis, the seventh published case of which is reported here. Importantly, treatment with N-acetyl cysteine, a radical scavenger, but especially with steroids resulted in hepatic improvement.

  • Arda Yavuz, Gökçen Ünverengil, Ayşe Nur Toksöz Yıldırım, Hatice Şeyma Maraşlı, İlyas Tuncer

    Hepatosteatosis, a common condition, is increasing in prevalence. It is typically associated with diet, alcohol consumption and obesity. In some cases, a rare genetic disease may be the underlying defect. Lipid storage myopathy (LSM) is a genetic disease caused by lipid metabolism defects. LSM often affects the muscles, heart and liver. Coenzyme Q, riboflavin or carnitine replacement can be beneficial in some cases. We describe a patient who presented with liver failure and was unresponsive to treatment.

  • Mohamed Labied, Siham Salam, Salma Jabri, Dalal Laoudiyi, Kamilia Chbani, Lahcen Ouzidane

    First described by the French surgeon Maurice Morel-Lavallee in 1853, Morel-Lavallee syndrome (MLS) is a serolymphatic effusion resulting from tangential injury to richly vascularized tissues. The imaging characteristics may be variable over time due to lesion progression and the eventual organization of a fibrous capsule. We report a case of extensive MLS in the lower leg of a 12-year-old child. We discuss the ultrasound and magnetic resonance imaging findings and describe the differential diagnoses.

  • Abdullah R Alenezi, Muath Alanbaei, Islam Abouelenein

    Patent foramen ovale is a risk factor for systemic embolic events such as cryptogenic stroke. Far less commonly, patent foramen ovale is associated with non-cerebral systemic embolic events. Paradoxical coronary artery embolism is a rare and underdiagnosed cause of acute myocardial infarction. It should be considered in patients presenting with myocardial infarction and an otherwise low-risk profile for atherosclerotic coronary artery disease. We describe a case of paradoxical coronary artery embolism causing ST elevation myocardial infarction. Echocardiography demonstrated patent foramen ovale with a significant shunt. In addition to the treatment of the acute coronary event, patent foramen ovale closure was performed to prevent recurrent paradoxical embolic events.

  • Ossama Maadarani, Hany Alfayed, Zouheir Bitar, Moataz Daher, Tamer Zaalouk, Mohamed Abdelfatah

    Cholesterol embolization syndrome (CES) is an atherosclerotic complication affecting different systems with various clinical manifestations, usually triggered iatrogenically by interventional and surgical procedures or thrombolytic therapy, although spontaneous cases have been reported. The hepatobiliary system can also be affected when the showered cholesterol crystals obliterate small vessels within this system causing both ischaemic and inflammatory responses. We describe a case of a male patient who initially developed multiple lacunar cerebral infarcts 10 days post-thrombolytic therapy and percutaneous coronary intervention (PCI) due to acute myocardial infarction. Several weeks later he developed acalculous cholecystitis complicated by liver abscess and kidney injury. The consequences and latency of manifestations within different organs and the temporal relationship with well-known trigger factors raised the suspicion of CES.

  • Gilles Jadd Hoilat, Abinash Subedi, Mohamad Fekredeen Ayas, Nuri Ozden

    Extraintestinal manifestations of Crohn's disease sometimes occur and can present prior to intestinal symptoms. Ocular manifestations of Crohn's disease are considered rare, with orbital myositis an even rarer manifestation with only a handful of cases reported in the literature. We present the case of a young woman who was diagnosed with orbital myositis, which was initially attributed to pseudotumor cerebri after an extensive negative work-up. Months later, the patient presented with haematochezia, and was subsequently diagnosed with Crohn's disease.

  • Zouheir Ibrahim Bitar, Ossama Sajeh Maadarani, Mohamed Jaber Mohsen, Nawal Usamah Alkazemi

    A 39-year-old woman who was taking the contraceptive pill was admitted with right leg deep venous thrombosis (DVT). She was started on apixaban tablets, but after 8 days developed proximal progression of the DVT and pulmonary embolism. Her medical history later showed a history of sleeve gastrectomy. The patient responded to a vitamin K antagonist after heparin. The failure of the antithrombotic drug shed light on the efficacy and changed pharmacodynamics of direct oral anticoagulants (DOACs) after bariatric surgery in the absence of commercially available blood monitoring tests.

  • Brian Cheung, Chris Levy, Abhijit Shivkumar

    Background: Paliperidone and mirtazapine are psychotropic agents associated with proarrhythmic effects. 
    Case Presentation: A 21-year-old woman was admitted to the intensive care unit on two separate occasions for attempting suicide by overdosing on paliperidone and mirtazapine. During both admissions, the patient had atypical chest pain and a first-degree atrioventricular block (AVB) with paradoxical sinus tachycardia, which resolved with the discontinuation of paliperidone and mirtazapine and aggressive intravenous fluids.
    Conclusion: Drug-induced first-degree AVB from paliperidone and mirtazapine should be on the differential diagnosis in patients on paliperidone and/or mirtazapine who present with chest pain, tachycardia or new-onset first-degree AVB

  • Hassene Attout, Sofia Amichi, Youcef Belkheir

    Spontaneous periodic hypothermia is a rare syndrome presenting with recurrent, centrally mediated hypothermia without an identifiable systemic cause or brain lesion. The case of an 88-year-old woman with recurrent hypothermia is reported. Despite intensive investigation, no other manifestations of hypothalamic or autonomic dysfunction were found. No corpus callosum lesion was seen on MRI. The patient was successfully treated with clomipramine chlorhydrate.

  • Ana Oliveira Monteiro, Inês Branco Ferreira, Artur César, Alberto Mota, Jorge Pinheiro, José Manuel Lopes, M Teresa Cardoso

    Cutaneous angiosarcoma is a rare, highly malignant tumour of vascular endothelial origin. It usually arises in the skin and superficial soft tissue, mostly on the head and neck. It presents as a variety of lesions, and so is considered a great mimicker, leading to a delay in diagnosis and evidencing the importance of biopsy with immunohistochemistry confirmation. There are few reports of extremity involvement in patients with pre-existing chronic lymphoedema, or exposure to radiation therapy. We report the case of an 82-year-old woman with lower limb extensive cutaneous involvement, distant metastatic disease, and poor therapy response. Its rare location without predisposing factors highlights the need to raise awareness about this disease

  • Sameh Saleh, Ishak Mansi

    Chronic obstructive pulmonary disease (COPD) exacerbations are most commonly triggered by infections, but up to 25% of those that require hospitalization are thought to be triggered by acute pulmonary embolism. We present the case of a 71-year-old patient with a history of unprovoked pulmonary embolisms on anticoagulation therapy hospitalized for a COPD exacerbation. The exacerbation was triggered by an acute pulmonary embolism, representing anticoagulation failure.

  • Daniel Micallef, Charlton Agius, Charles Mallia-Azzopardi, Gerald Buhagiar, Lawrence Scerri

    Background: Variegate porphyria (VP) is a rare disorder of haem biosynthesis. We report a novel association with hepatitis A infection.

    Patient and methods: A 31-year-old man was diagnosed with acute hepatitis A infection. During recovery, he presented with abdominal pain and a photoaggravated blistering skin eruption.

    Results: Urine porphyrin precursors were markedly raised with high coproporphyrin III isomer levels. Faecal protoporphyrin levels were markedly increased and a maximum plasma fluorescence emission at 629 nm was noted. 

    Discussion: Acute hepatitis A infection, and the associated metabolic stress exerted on the haem biosynthetic pathway, induced overt presentation of latent VP.

  • Romina Häfelfinger, Anne-Valérie Burgener, Michael Osthoff, Eliska Potlukova

    An 81-year-old patient presented to the emergency department with a dark lesion on his forehead and swelling of his left eye, 3 days after a minor forehead injury and skin laceration. He also showed singular papules on his chin, upper chest, upper arms and back, later evolving into vesicles. Polymerase-chain reaction testing of vesicle content was positive for VZV and HSV-1, confirming a diagnosis of disseminated cutaneous herpes virus infection and concomitant HSV-1 reactivation. Antiviral and antibiotic treatment was initiated for 1 week with an immediate response. This case report highlights the association of head trauma and subsequent reactivation of VZV in patients at risk. Simultaneous reactivation of HSV-1 and VZV is rare in immunocompetent patients.

  • David FGJ Wolthuis, Ron W Bosboom, Robert-Jan Hassing

    Spontaneous splenic rupture is a known, but rare and possibly fatal, complication of different infectious diseases. We present a case of a 38-year-old male patient who presented with fever, icterus and spontaneous splenic rupture after a visit to Vietnam and discuss the differential diagnosis of splenic rupture in ill returned travellers.

  • Xenofon M Sakellariou, Andreas Efstathopoulos, Konstantinos V Stamatis, Dimitrios N Nikas, Theofilos M Kolettis

    Right heart thrombi are detected in approximately 4% of patients with pulmonary embolism. The associated mortality is high, but the optimal strategy remains controversial. We report a case of a large mobile right heart thrombus, complicated by embolism of the right pulmonary artery, which was successfully treated with half-dose alteplase. We briefly review the literature and discuss the therapeutic options, focusing on the advantages of thrombolysis.

  • Andreia Freitas, Telmo Coelho, Sara Beça, Tiago Gregório

    Urinothorax is a rare type of pleural effusion and usually the result of genitourinary tract disease. An accurate and early diagnosis is crucial as resolution of the underlying pathology is the mainstay of treatment. We report the case of a 69-year-old man who was admitted to the Internal Medicine ward due to obstructive acute kidney injury of unknown origin. The patient was submitted to urinary catheterization and to right percutaneous nephrostomy. Two weeks after admission he developed a large left pleural effusion; a left urinoma was also visible on computed tomography. After thoracentesis, pleural fluid analysis demonstrated a paucicellular transudate with pH <7.40 and pleural fluid/serum creatinine ratio >1.0. The diagnosis of urinothorax was made and further study allowed the diagnosis of prostate cancer as the aetiology of the obstruction. When bilateral percutaneous nephrostomy was performed, resolution of the urinothorax and normalization of renal function occurred.

  • Gabriella A Conte, Marjan Alidoost, Mitchel S Devita, Jonathan S Harmon, Jake W Schuler, Fernando Brea, Taliya Farooq, Angelo A Chinnici

    Primary aortic sarcoma is a rare and aggressive malignancy with only approximately 190 cases reported in the literature. While angiosarcoma and intimal sarcomas represent an estimated 67.7% of malignant aortic tumours, spindle cell sarcomas are even more exclusive, consisting of only 0.9% of malignant aortic tumours. Differentiated from other malignant aortic tumours, spindle cell sarcomas are of mesenchymal origin and usually express vimentin and osteopontin. Clinical presentations are variable and nonspecific, ranging from back pain, abdominal pain or elevated blood pressure, misleading to differentials like pulmonary emboli or aortic aneurysms such as in our case here. In this article, we discuss the finding of an extremely rare aortic sarcoma masquerading as a pulmonary embolism. The patient underwent surgical resection; however, the course was complicated by the development of brain metastases and intracranial haemorrhage. The literature is expanding regarding the evolution of adjuvant chemotherapy and radiation therapy in the treatment of these patients. The exact pathogenesis of spindle cell sarcomas is unknown but thought to be related to the MDM2-p53 pathway. The development of spindle cell sarcomas may be related to Li-Fraumeni syndrome, which should be on the differential for these patients. This case highlights the importance of identifying aortic sarcomas in patients who present with signs and symptoms of peripheral embolization as the diagnosis can be easily misconstrued for thrombus or aortic aneurysm, leading to a delay in proper and timely management. We herein emphasize that aortic sarcomas should be included in the clinician’s working differential due to the poor prognosis and outcomes that these aggressive tumours carry.

  • Gisela Vasconcelos, Ligia Santos, Catarina Couto, Margarida Cruz, Alice Castro

    Tuberculosis remains one of the most common infectious diseases. Miliary presentation is a rare and possibly lethal form, resulting from massive lymphohaematogenous dissemination of Mycobacterium tuberculosis bacilli. The authors describe the case of a 47-year-old immunocompetent woman, diagnosed with miliary tuberculosis, with both lung and central nervous system involvement, who showed total recovery after starting anti-tuberculous drugs. The atypical neutrophilic-predominant pleocytosis and negative cerebrospinal fluid microbiological results made the diagnosis even more challenging. Since prognosis largely depends on timely treatment, recognition and prompt diagnosis is important. Thus, clinicians should be aware and treatment should be initiated as soon as the diagnosis is suspected.