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  • Abdullah Alenezi, Jadan Alsaddah, Ossama Maadarani

    Chest pain in a young postpartum female can have many causes; however, when associated with ST elevation on ECG, spontaneous coronary artery dissection (SCAD) should be high on the list. Coronary angiography remains the first step in delineating the coronary lesion in suspected cases of SCAD and optical coherence tomography (OCT) can be crucial when the angiographic appearance remains uncertain. We present a case of a young postpartum female with ST elevation myocardial infarction (STEMI). Coronary angiography revealed a dilated part of the middle segment of the left anterior descending (LAD) artery while intramural haematoma (IMH) of the coronary artery wall was found on OCT, which confirmed the clinically suspected diagnosis of SCAD.

  • Mauro Betelli, Fabio De Stefano, Alberto Tedeschi

    We describe the case of a patient hospitalized for the second time in a month due to delayed worsening of lung lesions in COVID-19 infection without bacterial superinfection. He was treated with hydroxychloroquine, IV dexamethasone and ruxolitinib with rapid improvement of respiratory failure; 1 month after the second discharge, maintaining low-dose oral prednisone, lung consolidations were significantly reduced on control CT.

  • 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.

  • Neha Akkad, Yang Jiang, Daniel Shin

    Significant leucocytosis in the setting of an underlying malignancy may be attributed to several causes and is not uncommon; however, extreme leucocytosis (>50×109 cells/l) and hypereosinophilia is less common and may represent a paraneoplastic syndrome. The underlying mechanism is thought to be bone marrow stimulation by tumour-produced cytokines, most notably interleukin-5 (IL-5) and granulocyte-macrophage colony-stimulating factor (GM-CSF). This paraneoplastic syndrome is likely reflective of extensive disease and dissemination, and options for treatment are limited but include tumour resection, corticosteroids and hydroxyurea. In this report, we discuss an unusual case of known stage III lung adenocarcinoma presenting with an ischaemic stroke and extreme leucocytosis and hypereosinophilia. 

  • 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.

  • 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.

  • Laura Gombošová, Jana Deptová, Juraj Podracký, Daniel Farkaš, Ivica Lazúrová

    Home parenteral nutrition is a therapeutic option for chronic intestinal failure. A tunnelled central venous catheter is commonly used for self-application of nutrition and hydration over a long period of time; that is, months or years. Air embolization within the venous circulation can be caused by inconsistent self-handling of the catheter in combination with air bubbles in the infusion set. Paradoxical air embolization within the brain and coronary arteries together with catheter perforation is a rare medical and technical complication. The authors report the case of a 63-year-old woman with type 3 chronic intestinal failure treated with home parenteral nutrition. During the first year of treatment and use of the catheter a fatal complication occurred. The patient experienced recurring asystolic episodes and strokes with monoplegia during flushing of the catheter. Although 2 resuscitations were successful, the third was not, and the patient died. The cause of these life-threatening complications was an unknown patent foramen ovale, with paradoxical air embolization within the coronary and brain arteries. The authors discuss the clinical consequences of arterial and venous air embolization, the differences between these and the therapeutic algorithm with a link to practice.

  • 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.

  • 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.

  • Mohammad Ammad Ud Din, Syed Ather Hussain, Bassil Said, Aneeqa Zafar

    A 44-year-old woman with no significant medical history presented with a 3-week history of high-grade fevers, fatigue and shortness of breath. Laboratory investigation was significant for lymphopenia and thrombocytopenia which progressively worsened during her hospital stay, along with new-onset anaemia, and elevated ferritin, transaminase and triglycerides. A computerized tomography (CT) scan of the abdomen revealed retroperitoneal lymphadenopathy. A bone marrow biopsy confirmed the diagnosis of haemophagocytic lymphohistiocytosis (HLH). Extensive infectious work-up revealed high IgG titres for Bartonella henselae and Coxiella burnetii. Interestingly, the left supraclavicular node was negative for both microbes by polymerase chain reaction (PCR), but the biopsy revealed anaplastic large T-cell lymphoma.

  • 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.

  • Varsha Gupta, Firas Ajam, Gabriella Conte, Alsadiq Al Hillan, Kadhim Al-Banaa, Vinit Singh, Michael Levitt

    Myeloid sarcoma (MS) is a very rare malignant tumour composed of myeloblasts. It most commonly involves soft tissue, bone, periosteum and lymph nodes, but unusual presentation sites have also been reported. Typically, MS evolves concurrently with active leukaemia or following remission, when it is known as secondary MS. But rarely MS can occur de novo without evidence of concomitant haematological disease. Herein, we report an unusual case of central nervous system-MS in a patient without evidence of concomitant haematological disease. In this case, progressive thoracic and lumbar pain with paraplegia ultimately led to the diagnosis of acute myeloid leukaemia. We also conducted a PubMed search for case reports, case series and reviews of past literature regarding central nervous system-MS and report our findings.

  • Jahanzeb Malik, Uzma Ishaq, Nismat Javed, Mirza Adnan Baig, Muhammad Javaid

    Warfarin is a readily available anticoagulant used worldwide in a variety of clinical scenarios. Patients who need more than 15 mg/day are considered to be warfarin resistant. Numerous genes have been implicated in warfarin pharmacogenetics, with genes encoding CYP2C9 and VKORC1 shown to be the most important determinants of drug dosage requirements. A 27-year-old woman was admitted as she had a sub-therapeutic international normalized ratio (INR) after prosthetic mitral valve replacement. Even after a warfarin dose of 50 mg/day, her INR was not in the therapeutic range, so the heart team decided to replace her metallic valve with a bioprosthetic valve, thus alleviating the need for anticoagulation.

  • 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.

  • William Campanella, Riccardo Pedrini, Lucilla Vestito, Lucio Marinelli, Carlo Trompetto, Laura Mori

    Background: Although many studies have demonstrated the effectiveness of transcranial direct current stimulation (tDCS) in improving speech recovery in post-stroke aphasia, as far as we know patients affected by thalamic aphasia have never been investigated.

    Patient and method: A 65-year-old man with severe non-fluent aphasia due to a left thalamic haemorrhagic stroke underwent intensive daily speech therapy combined with tDCS. 

    Results: The patient showed progressive improvement with almost complete recovery of his speech disorder, behavioural disinhibition and apathy. 
    Conclusions: Our findings suggest that tDCS with concurrent speech therapy can be useful in patients with subcortical stroke lesions.

  • Taku Harada, Takashi Watari, Taiju Miyagami, Satoshi Watanuki, Taro Shimizu, Juichi Hiroshige

    Diagnostic errors are a serious problem in healthcare. The diagnostic process is highly susceptible to cognitive bias and the current COVID-19 pandemic may cause normally accurate healthcare workers to make incorrect decisions. We report a case of aseptic meningitis that required five healthcare visits before it was correctly diagnosed. This case highlights the risk of anchoring bias and the importance of carefully assessing diagnostic processes during the COVID-19 pandemic.

  • Maria Inês Silva, Clara Matos, Fabio Correia, Sofia Carola, Maria João Gomes, Teresa Branco

    Rendu-Osler-Weber syndrome is a rare inherited syndrome with autosomal dominant transmission characterized by systemic arteriovenous malformations (AVMs) with multi-organ involvement. Its incidence is 1–2/100,000 and it is predominant in females (the male/female ratio varies from 1:2 to 1:4.5).Clinical manifestations and complications are related to recurrent bleeding and, in some cases, the development of end-organ failure. Management is mostly supportive care and it is essential to promote control of the disease as much as possible and screen eventual complications.

    We describe the case of a 67-year-old male patient with Rendu-Osler-Weber syndrome admitted to the emergency department with decompensated heart failure due to acute anaemia because of severe epistaxis. During hospitalization, the patient progressed to acute-on-chronic liver failure with hepatic encephalopathy and an abdominal computed tomography scan showed multiple hepatic AVMs considered to be the cause of the chronic liver 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.

  • Margarida Barata, Ricardo Gomes, Ana Catarina Moreira, Jorge Soares

    Tracheobronchopathia osteochondroplastica (TBPO) is an uncommon benign disease, characterized by osseous or metaplastic cartilaginous nodules in the submucosa of the tracheobronchial tree. TBPO is easy to misdiagnose due to its non-specific clinical manifestation. We describe two cases of TBPO. The first patient was a 57-year-old woman with nocturnal dry cough and wheezing, in whom bronchoscopy revealed small diffuse mucosal irregularities involving the airway until the segmental bronchi. The other patient was a 69-year-old man with progressive worsening dyspnoea and productive cough presenting with severe stenosis of the trachea. Histological examination of both cases was consistent with TBPO. These cases highlight distinct forms of presentation of this rare entity.

  • Yukinori Harada, Taro Shimizu

    The coronavirus disease 2019 (COVID-19) pandemic has made it difficult for physicians to follow their usual diagnostic processes. We present the case of a 25-year-old man with adjustment disorder who developed dyspnoea. He was concerned about COVID-19, but his test result was negative. After excluding COVID-19, the physician concluded that his symptoms were related to his psychiatric condition. However, the patient was diagnosed with pulmonary thromboembolism by another physician. To avoid missing a diagnosis, physicians must practice zero-based thinking, regardless of COVID-19 concerns, and not be distracted from the patient's core problems.

  • 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.

  • Maaike Ramael, Patrick Schoeters, Karl De Pooter, Frederik Van Sonhoven, Hilde Van Steelandt, Jacqueline Swaegers, Wim Develter, Marc Ramael

    We describe the case of a 66-year-old woman with littoral cell angioma (LCA) confirmed by histopathology and immunohistochemistry, to our knowledge the first case in Belgium. LCA is an extremely rare primary vascular tumour of the splenic red pulp, probably originating from littoral cells. If a splenic mass and nodules are incidentally identified on imaging and the patient has no associated signs or symptoms, LCA should be suspected. Histopathology and adjacent techniques are mandatory for definitive diagnosis. Splenectomy followed by adequate follow-up is necessary to exclude underlying pathology.

  • 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.

  • 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.

  • Kevin Kim-Jun Teh, Matthew Bingfeng Chuah, Shu-Wen Tay, Amanda Yuan-Ling Lim, Joan Joo-Ching Koo

    Parental iron replacement is given to patients with severe iron deficiency or intolerance to oral iron. Hypophosphataemia has been reported to occur as a complication of parental iron replacement, and is postulated to be related to the carbohydrate moieties used in the parenteral preparations. Hypophosphataemia is under-diagnosed as symptoms such as fatigue, muscle weakness and poor effort tolerance mimic anaemia. Severe hypophosphataemia (<0.32 mmol/l) can result in significant complications such as confusion, rhabdomyolysis and arrhythmias. We report a patient with recurrent admissions for non-specific symptoms attributed to iron deficiency anaemia who received multiple doses of parenteral ferric carboxymaltose (FCM). He was found to have severe hypophosphataemia, with further evaluation showing increased renal phosphate wasting and elevated serum levels of fibroblast-growth-factor 23 (FGF23). FCM was stopped and he was given high-dose oral iron supplementation, with no further episodes of hypophosphataemia.

  • 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.

  • 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.

  • Morika Suzuki, Takashi Watari

    A 61-year-old woman with a history of primary aldosteronism caused by unilateral hyperplasia of the adrenal gland presented with a 2-week history of redness and severe pain in the right thumb and thenar regions. She had initially visited a dermatologist and was diagnosed with cellulitis and treated with cefditoren pivoxil for 5 days, but there was no improvement. The pain worsened and was accompanied by a burning sensation. The dermatologist prescribed famciclovir for 5 days owing to suspicion of herpes zoster. The patient was then referred to our department because her symptoms persisted. Physical examination showed no abnormalities other than the redness in the right thumb and thenar regions and spontaneous moderate pain present throughout the right thumb. Investigations revealed normal blood chemistry and coagulation factor levels, except for elevated haemoglobin (18.2 g/dl). Further investigations revealed an erythropoietin level of 2.3 IU/ml and Janus kinase 2 mutation. Hence, we diagnosed the patient with erythromelalgia caused by polycythemia vera. In this report, we discuss the treatment of polycythemia causing erythromelalgia, and the aetiology of primary aldosteronism and polycythemia vera.

  • 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.

  • 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.

  • Ahmed Ben Saad, Asma Achour, Asma Migaou, Saousen Cheikh Mhamed, Nesrine Fahem, Naceur Rouatbi, Samah Joobeur

    Haemoptysis is a frequently occurring but sometimes life-threatening condition. Congenital cardiovascular abnormalities are rare causes of haemoptysis. We report a case of a 33-year-old man without any past medical history complaining of haemoptysis with no other associated clinical manifestations. A contrast-enhanced chest computed tomography scan revealed aortic coarctation with dilation of the internal mammary, intercostal and bronchial arteries. He underwent stent placement after balloon angioplasty with favourable outcomes.

  • 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.

  • 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.

  • Georgiana Cristina Taujan, Felicia Baleanu, Linda Spinato, Ruth Duttmann, Rafik Karmali, Laura Iconaru

    Pheochromocytoma, papillary thyroid carcinoma and hyperparathyroidism have rarely been reported together. Whether this association is coincidental or results from an unknown genetic predisposition is difficult to ascertain.
    We present the case of a patient who was diagnosed with pheochromocytoma, bilateral papillary thyroid carcinoma and parathyroid hyperplasia with primary hyperparathyroidism. A genetic mutation was hypothesized as the connection between these lesions. Previously described mutations were explored.

  • 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.

  • Moni Roy, Annia Martial, Sharjeel Ahmad

    Nocardia is a genus of aerobic, non-motile and non-spore-forming filamentous branching bacteria with fragmentation into bacillary or coccoid forms. Infections caused by Nocardia often occur in immunocompromised hosts and are potentially life-threatening. Nocardia beijingensis has rarely been reported to cause infection in immunocompetent hosts. We present a case of disseminated infection due to Nocardia beijingensis in a patient with no known medical comorbidities, who presented with new-onset seizure. Another interesting finding in our case is that our patient did not have any pulmonary symptoms despite chest CT showing the pulmonary system as the likely primary site of infection. As per our literature review, this is the seventh reported case of infection due to Nocardia beijingensis in an immunocompetent host.

  • Kevin Kim-Jun Teh, Albert Su-Chong Low, Jason Pik-Eu Chang, Chee-Kiat Tan

    Patients with liver cirrhosis are at increased risk of developing hepatocellular carcinoma (HCC) and are placed on routine surveillance for HCC. Diagnosis algorithms are in place to guide clinicians in the evaluation of liver lesions detected during surveillance. Radiological assessments are critical with diagnostic criteria based on identification of typical hallmarks of HCCs on multiphasic computed tomography (CT) and dynamic contrast-enhanced magnetic resonance imaging (MRI). We report a patient with a hypervascular exophytic lesion indeterminate for HCC on CT imaging. While the detection of an exophytic arterially-enhancing lesion in an at-risk patient on CT imaging may prompt clinicians to treat the lesion as HCC without further evaluation, the patient underwent contrast-enhanced MRI with the lesion being eventually diagnosed as an exophytic haemangioma. Thus, no further action was necessary and the patient was continued on routine HCC surveillance.

  • 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.

  • Moni Roy, Nikhut Siddique, Bindu Bathina, Sharjeel Ahmad

    Toxoplasma gondii is a known cause of encephalitis in human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/AIDS) patients. Toxoplasma pneumonitis is a manifestation of extracerebral toxoplasmosis and can be clinically indistinguishable from other opportunistic infections including Pneumocystis jirovecii pneumonia (PJP) and miliary tuberculosis. In this case report, Toxoplasma pneumonitis and disseminated toxoplasmosis was diagnosed using next-generation sequencing (NGS) and polymerase chain reaction (PCR) assessment. NGS can detect microbial cell-free DNA (cfDNA) circulating in the plasma of over 1,000 pathogens. This case is a rare presentation of Toxoplasma pneumonitis in the absence of neurological symptoms and we discuss the use of NGS of microbial cfDNA and PCR tests that may be utilized for the timely diagnosis of such challenging cases.

  • Evelien De Roo, Frederik Van Durme, Laurent Vanneste, Becker Alzand, Alex Heyse

    Persistent left superior vena cava (PLSVC) is a congenital venous abnormality, characterized by an enlarged coronary sinus, in most cases without haemodynamic consequences. We report the case of a patient with systolic heart failure undergoing implantation of a defibrillator lead through a PLSVC which was diagnosed at the moment of implantation.

  • 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.

  • Héctor Montenegro-Rosales, Blanca Karina González-Alonso, Omar Cárdenas-Sáenz, Alonso Gutierrez-Romero

    Background: Reversible cerebral vasoconstriction syndrome (RCVS) is defined as a clinical and radiological syndrome that comprises a group of disorders characterized by sudden-onset severe headache and segmental vasoconstriction of the cerebral arteries with resolution within 3 months.
    Case presentation: A 51-year-old female patient with a 2-week history of sudden-onset severe headache, visual disturbances and cerebellum; no relevant imaging findings, except for an infundibular dilation at the origin of the posterior communicating artery, and so, angiography was performed. When symptoms persisted, a new imaging study was carried out with findings of RCVS as the cause of the symptoms from the beginning.
    Conclusions: Findings of RCVS can be obtained in various vasculopathies of the nervous system and vasculitis, being misdiagnosed, and so, clinical suspicion is essential; if vasoconstriction is not demonstrated on the initial image and other diagnoses have been excluded, the patient should be managed as having possible or probable RCVS.

  • 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.

  • 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

  • Firdevs Ulutaş, Veli Çobankara, Aslı Bozdemir, Uğur Karasu

    Systemic lupus erythematosus is a chronic autoimmune disease with a wide variety of clinical presentations induced by different immunocomplexes and autoantibodies. Antiphospholipid antibody syndrome (APLAS) is a life-threatening clinical condition characterized by venous and arterial thromboses or pregnancy morbidity in the presence of persistent moderate/high levels of antiphospholipid antibodies. Aortic dissection is rarely associated with APLAS and always requires prompt diagnosis and early treatment. We report a rare case with a striking presentation. The patient developed multi-organ failure due to lethal aortic dissection and the obstruction of abdominal and thoracic branch vessels.

  • 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.

  • 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

  • Héloïse Van Noten, Samuel Markowicz, Serge Cappeliez, Soraya Cherifi

    The serological prevalence of Epstein-Barr virus (EBV) among young adults exceeds 90% worldwide. Even though EBV primary infection is usually benign, severe complications can occur in adolescents and young adults and so the disease must be promptly diagnosed. The development of an oropharyngeal abscess leading to a descending necrotizing mediastinitis (DNM) is exceptional and potentially lethal, so early diagnosis with a CT scan, appropriate antibiotics and surgery are essential. 
    The authors present a case where DNM was associated with reactive hemophagocytic syndrome as a result of infectious mononucleosis, as well as a review of similar cases in the English literature.

  • 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.

  • 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.