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  • 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.

  • Shaul Yaari, Elchanan Juravel, Murad Daana, Samuel Noam Heyman

    Stab-like localized chest pain, aggravated by breathing, is compatible with pleuritic pain or with aching related to chest wall abnormalities. Local tenderness inflicted by palpation helps to differentiate pleuritic from musculoskeletal chest pain and serves as a principal accessory manoeuvre in the algorithm of chest pain evaluation.
    Herein, we report the case of a 27-year-old patient with pulmonary thromboembolism and right lower lobe consolidation/atelectasis. The patient presented with right-sided chest pain, radiating to the shoulder, related to pleural irritation, yet associated with confounding intense chest wall tenderness and guarding, also involving the costovertebral angle. We propose that spinal reflex-related chest wall tenderness was involved, similar to peritoneal signs evoked by irritation of the parietal peritoneum.
    This case report illustrates that localized chest wall tenderness and guarding, triggered by palpation, may not serve as unequivocal indicators of musculoskeletal pain, and could be unrecognized features of pleuritic chest pain also.

  • 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.

  • 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.

  • César Burgi Vieira, Ana Teresa Ferreira, Filipa Botelho Cardoso, Jorge Pelicano Paulos, Nuno Germano

    Background: Kawasaki-like syndrome occurring in children during the COVID-19 pandemic has been labelled multisystem inflammatory syndrome in children (MIS-C) by the CDC and paediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 infection (PIMS-TS) by the ECDC. 
    Case report: We report the case of an 18-year-old male patient presenting with a 72-hour history of abdominal pain, fever, erythematous skin rash, vomiting and diarrhoea. Examination showed he also had shock and he was first thought to have oedematous cholecystitis. SARS-CoV-2 infection was also diagnosed. He was admitted to the ICU, and echocardiography showed cardiac dysfunction, with a low ejection fraction and low cardiac index. High-sensitivity troponin serum levels were elevated. The patient received inotropic and vasopressor support. As he fulfilled several criteria for MIS-C/PIMS-TS, he was administered acetylsalicylic acid, corticosteroids and immunoglobulin, with a good clinical response.<br />
    Conclusion: This case emphasizes how this severe presentation of COVID-19 can easily be misdiagnosed if the clinician is less aware of this syndrome in younger patients.

  • 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.

  • 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.

  • 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.

  • 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.

  • 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.

  • Pedro HF Amaral, Bernadete MC Ferreira, Sergio Roll, Precil DMM Neves, Luca GA Pivetta, Sara Mohrbacher, Eduardo RM Dias, Victor AH Sato, Érico S Oliveira, Leonardo VB Pereira, Alessandra M Bales, Luciana L Nardotto, Jéssica N Ferreira, Américo L Cuvello-Neto, Pedro R Chocair

    COVID-19 is a severe disease that has reached pandemic status. To the best of our knowledge, we describe the first case of COVID-19 and cytomegalovirus (CMV) co-infection in a critically ill patient. We discuss the challenge of establishing the diagnosis as well as the management of tissue-invasive gastrointestinal CMV infection (TI-GI CMV) simulating vascular involvement and intestinal obstruction in a critically ill patient.

  • 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.

  • 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.

  • Cristina Pires Correia, Inês Neves, Paulo Chaves, Teresa Cardoso, Roberto Silva, Jorge Almeida

    Phenylketonuria (PKU), the most common inborn error of amino acid metabolism, has been associated with an increased risk of renal impairment, the reason for which is not fully understood. We report the case of a 33-year-old female patient diagnosed with PKU in adulthood after suspicion of the disease in her daughter. The diagnostic approach revealed proteinuria, and minimal change disease (MCD) was identified. Therapeutic measures and follow-up are discussed. The possible link between these two disorders is interesting. Attenuated developmental delay of untreated PKU could be explained by the decreased accumulation of phenylalanine secondary to proteinuria. On the other hand, MCD may be a possible, although as yet unreported, pathophysiological mechanism explaining the renal repercussions that have been found in adult PKU patients, who should be screened for proteinuria.

  • 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.

  • Marta Mejias Trueba, Marta Alonso Moreno, Noemi Garrido Puñal, Maria Soriano Martinez

    Tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is a rare hereditary systemic autoinflammatory disease (SAID). Treatment is based on corticosteroids, but often requires the addition of a biologic drug (anti-TNF agent, IL-1 receptor antagonist, etc) to achieve symptom control. The addition of the second drug is not clearly defined and must take into account the characteristics and preferences of the patient. We describe a patient with TRAPS and an allergic reaction to anakinra which was difficult to manage clinically while alternative treatment was being identified.

  • 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.

  • 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.

  • Ana Ferreira, Mariana Serino Barbosa, Rita Coelho, Patrícia Lourenço

    Hypoglycaemia is rare in apparently well patients without drug-treated diabetes mellitus and warrants evaluation and management when Whipple’s triad is present. Even in the absence of Whipple’s triad, when repeatedly low values of plasma glucose are documented, the presence of endogenous hyperinsulinism should be investigated. The authors describe a case of endogenous hypoglycaemic hyperinsulinism, its diagnosis and treatment and the challenges of determining its aetiology.

  • 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.

  • 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.

  • Ahmed Osman Saleh, Shaikha D. Al-Shokri, Ashraf Ahmed, Ahmed Elmustafa Musa, Mouhand FH Mohamed

    Coronavirus disease 2019 (COVID-19) was first reported in Wuhan, China, in December 2019. The disease is caused by severe acute respiratory syndrome virus coronavirus 2 (SARS-CoV-2). A few published cases have linked COVID-19 and hyponatremia. The mechanism of hyponatremia in these cases is related to the syndrome of inappropriate antidiuretic hormone secretion (SIADH). Here we present a unique case of urinary retention and SIADH as unusual presenting features of SARS-CoV-2 infection.

  • 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. 

  • 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.

  • 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.

  • Tareq Tuaima , Abdulhalim Jamal Kinsara, Amtalkaliq Alrajawi, Hassan Allam , Shadwan Alfakih

    The effect of COVID-19 on the cardiovascular system still needs to be clarified. Patients can develop a spectrum of cardiac diseases, from mild myocarditis to acute coronary syndrome with an impaired systolic fraction. We describe an interesting case of transient ST segment elevation in a COVID-19 patient admitted to ICU for severe respiratory distress syndrome. During his stay in ICU, the patient developed transient ST segment elevation in inferior-lateral leads which promptly resolved without requiring any additional invasive and/or pharmacological treatment.
    Transthoracic echocardiography showed a preserved ejection fraction without any regional abnormalities and the rise in enzyme biomarkers was insignificant. The case highlights the importance of avoiding invasive procedures in this subset of patients to reduce both patient complications and medical staff exposure. Careful evaluation including echocardiogram and second-line examinations should be performed before invasive and aggressive treatment is undertaken.

  • 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.

  • 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.

  • 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.

  • Gianfranco Lessiani, Andrea Boccatonda, Damiano D'Ardes, Giulio Cocco, Giuseppe Di Marco, Cosima Schiavone

    SARS-CoV-2 causes blood hypercoagulability and severe inflammation resulting in an increased risk of thrombosis. Consequently, COVID-19 patients with cardiovascular disease seem to be at higher risk of adverse events. Mondor’s disease is a rare, generally self-limiting, thrombosis of the penis. The pathogenesis of Mondor’s disease is unknown, and it is usually diagnosed through clinical signs and with Doppler ultrasound evaluation. We describe the case of a young man with COVID-19 infection who manifested Mondor’s disease.

  • 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.

  • 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.

  • Rehab Yusuf AL-Ansari, Maan Al Harbi, Nawaf Al-Jubair, Leena Abdalla

    Background: Sickle cell disease is a genetic condition frequently found in Africa and the Arabian Peninsula. Uncommon complications include subgaleal haematoma (soft head syndrome) and periorbital oedema.
    Case presentation: A 17-year-old male patient presented with body aches and progressive right parieto-temporal and frontal head swelling. Physical examination revealed puffiness of the right eye that progressed rapidly to reddish periorbital oedema sparing the extraocular muscle and pupil response to light. CT and MRI of the brain suggested multiple subgaleal haematomas (soft head syndrome) and right periorbital oedema.
    Conclusion:Subgaleal haematoma (soft head syndrome) and periorbital oedema are uncommon complications of sickle cell disease. Management is conservative rather than surgical.

  • 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.

  • Tulika Chatterjee, Johnathon Stephens, Moni Roy

    Segmental arterial mediolysis (SAM) is a non-inflammatory, non-atherosclerotic vasculopathy mostly involving the abdominal arteries. SAM was recently recognized as a more prevalent aetiology of abdominal pain than initially thought by healthcare providers. It is still a commonly missed diagnosis in patients with recurrent emergency room (ER) visits for abdominal pain. Most published case reports in the past have highlighted catastrophic sequelae such as intra-abdominal haemorrhage requiring surgical intervention. We report a case of SAM where the diagnosis was initially missed. After diagnosis, conservative medical management was offered which led to clinical improvement.

  • 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.

  • Camila da Silva Cendon Duran, Mittermayer Barreto Santiago

    Secukinumab is an inhibitor of interleukin IL-17A, and is mainly used in the treatment of psoriasis, psoriatic arthritis and ankylosing spondylitis. Although rarely, this drug may induce paradoxical reactions, such as cutaneous vasculitis. Worldwide, only four previous cases of vasculitis induced by secukinumab have been reported. We herein report the first case described in Brazil of cutaneous vasculitis due to secukinumab in a patient with peripheral spondyloarthritis who demonstrated good resolution after withdrawal of the drug and initiation of etanercept. Clinicians should be aware of this rare but potentially serious adverse effect of secukinumab.

  • 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.

  • Julio César Martínez, Ernesto Alfonso Ovalle-Zavala

    Thyroid storm is a rare, life-threatening condition that can be caused by various pathologies including serious conditions associated with human chorionic gonadotropin (hCG)-producing tumours.
    We present the case of a 17-year-old male patient with a 1-month history of dyspnoea and a 3-day history of palpitations and fever. General examination revealed a left testicular mass. Blood tests revealed ?-hCG >225,000 mIU/ml, thyroid-stimulating hormone (TSH) 0.02 IU/ml, and thyroxine (T4) 19.07 µg/dl. He was admitted with thyroid storm. Treatment with antithyroid drugs and chemotherapy was started, but the patient died on the third day of admission.
    This case highlights a rare occurrence of thyroid storm linked to testicular choriocarcinoma, and provides a necessary reminder that, in some instances, hCG at very high levels can exert a thyrotropic effect due to its molecular structure, which is similar to that of TSH.

  • Luisa Costantini, Marco Marando, Pietro Gianella

    Tuberculosis (TB) is a cause of ill health and death worldwide. Since 2010, the diagnostic process has strongly relied on GeneXpert assays on biological specimens. Xpert MTB/RIF is an automated nucleic acid amplification test (NAAT) for Mycobacterium tuberculosis and rifampicin resistance, endorsed by the World Health Organization and the US Food and Drug Administration. Xpert is used in many countries as the initial diagnostic test for tuberculosis. Nevertheless, the reliability of GeneXpert positive tests in patients with a history of TB is largely unknown, due to possible false-positive results (i.e., GeneXpert-positive but culture-negative patients). We present a case report of a patient with a history of pulmonary TB, who was GeneXpert positive but culture negative on bronchoalveolar lavage 22 months after completion of appropriate antitubercular therapy.

  • Aleksandar Stepanović, Marina Nikitović, Andrija Bogdanović, Danica Grujičić

    We describe long-lasting and incompletely resolved thrombocytopenia after transient profound pancytopenia in a 62-year-old female patient with glioblastoma after short-term radiotherapy with temozolomide. Pancytopenia was present for more than 4 weeks and thrombocytopenia for more than 6 months, without platelet recovery to normal levels.

  • Anouk Le Goueff, Nicolas Mavroudakis, Benjamin Mine, Olivier De Witte, Gauthier Remiche

    Spinal dural arteriovenous fistulas (SDAVFs) are often misdiagnosed as their symptoms are non-specific, leading to treatment delay and a poor outcome.
    We describe the case of a 53-year-old man with a history of progressive paraparesis that worsened abruptly after an epidural corticosteroid injection. We highlight here the need for high diagnostic suspicion for an SDAVF in patients deteriorating after an epidural injection and an indication of repeated spine imaging in such cases.
    Finally, this is the first reported case of an SDAVF in a HIV-positive patient and it emphasizes the need for a broad differential diagnosis.

  • Neeraja Swaminathan, Francisco Aguilar

    In this case, a 76-year-old female presented with 3–4 days of fever with no other localizing signs. Notably, she had had an untreated Fusobacterium bacteraemia approximately 8 weeks prior to admission. She underwent abdominal imaging which demonstrated a liver abscess and had percutaneous drainage of the same. Blood and pus cultures both grew Fusobacterium nucleatum, which is an unusual organism to be associated with a liver abscess, especially in an immunocompetent host with no risk factors for this condition. Interestingly, this patient did not have any history of dental work, instrumentation, liver function test (LFT) abnormalities and no extrahepatic source for the abscess. This case highlights the importance of having a high index of clinical suspicion for an occult source of infection and emphasizes the importance of following up on cultures even after discharge of a patient, since anaerobic infections such as those caused by Fusobacterium can have a largely indolent course.

  • Diana Pinho dos Santos, Marlene Delgado, Adelino Carragoso

    The authors present a case of phantom tumour of the lung. This is a type of pleural effusion where fluids accumulate in the interlobar fissures, typically in the transverse fissure. Its prompt recognition avoids additional, unnecessary or expensive examination and treatment mistakes.

  • Sherif Monib, Kevin Seebah

    Subungual squamous cell carcinoma (SCC) is a rare malignant tumour with an indolent course and unknown aetiology. It is usually misdiagnosed as a benign lesion, resulting in delayed treatment. Although psoriasis is not a precancerous skin condition, the treatment modalities cyclosporine and psoralen with ultraviolet A (PUVA) might increase the risk of developing cutaneous SCC, although a relationship has not been confirmed.
    We describe a patient with psoriasis who had been treated with cyclosporine and PUVA 6 years previously. He developed back SCC 2 years later, a subungual skin lesion after another 2 years and presented to us 1 year later, when nail elevation and biopsy revealed SCC.

  • Hui Boon Tay, Stanley Angkodjojo, Zhi En Amos Tay, Puay Hoon Tan, Yan Denise Tan

    New-onset systemic lupus erythematosus (SLE) is uncommon in elderly patients. We report the case of a 71-year-old woman who was diagnosed with SLE based on clinical manifestations of fever, alopecia, bicytopenia, hepatomegaly, lymphadenopathy, glomerulonephritis, positive antinuclear antibody (ANA) and anti-double stranded DNA (anti-dsDNA) antibody. Renal biopsy was consistent with lupus nephritis and excision biopsy of a right inguinal lymph node was initially reported as having features of reactive hyperplasia. However, a more careful review of the lymph node biopsy subsequently confirmed a concurrent angioimmunoblastic T-cell lymphoma. This case illustrates the importance of investigating secondary causes and possible alternative diagnoses in patients who present with atypical features of connective tissue disease, and the challenges in diagnosing a rare form of lymphoma.

  • Moni Roy, Ashish Kumar Roy, Jan Nalinee Upalakalin, Sharjeel Ahmad

    Disseminated histoplasmosis is most commonly caused by Histoplasma capsulatum and is a known opportunistic infection in immunocompromised patients. The clinical presentation of histoplasmosis varies from asymptomatic to a progressive disseminated form. Pulmonary and CNS involvement is common in disseminated histoplasmosis. Rarely, disseminated disease can present as vulvar lesion in the absence of pulmonary symptoms, causing a delay in diagnosis. As per our PubMed literature search, there have only been two reported cases where vulvar lesion was the only presenting symptom of disseminated disease. In our patient, a histopathological diagnosis was made with staining showing budding yeast forms of histoplasma.

  • Subash Ghimire, Kriti Suwal, Tsujung Yang, Hafiz Khan, Matthew Lincoln

    Introduction: Recurrent deliberate sharp foreign body ingestion is associated with frequent hospitalizations and a high risk of complications, including perforation and peritonitis. These patients require urgent care. In addition, removal of foreign bodies can be challenging.
    Case Description:We describe the case of a patient with borderline personality disorder who was admitted multiple times with sharps ingestion and presented challenges with her care.
    Conclusion: Our case highlights the cause of recurrent sharps ingestion and provides recommendations on the retrieval of sharp foreign bodies and prevention.

  • Brian Cheung, Abhijit Shivkumar, Ahmed Ahmed

    Background: Non-bacterial thrombotic endocarditis (NBTE) is a paraneoplastic phenomenon with sterile vegetations. It is associated with adenocarcinoma and can shower emboli, which can be the presenting symptom.
    Case Presentation: A 44-year-old woman with adenocarcinoma of the lung presented with chest pain, left hand weakness, and ataxia due to repeated embolic showering from NBTE to the central nervous system (CNS) and spleen.
    Conclusion: NBTE is a rare condition that should be on the differential diagnosis in patients with culture-negative endocarditis and a history of adenocarcinoma.

  • Christian Neumann, Rene Kaiser, Judith Bauer

    Toxic shock syndrome (TSS) is a rare inflammatory response syndrome associated with an infection by toxigenic strains of Staphylococcus aureus or group A ?-haemolytic Streptococcus. We report a rare case of menstrual TSS associated with usage of a menstrual cup. The diagnosis was established through case definition criteria and supported by vaginal cultural growth of Staphylococcus aureus with evidence of TSS toxin 1 (TSST-1). The patient received prophylactic intravaginal clindamycin in an individual approach to reduce the risk of recurrence. No relapse was reported in the 12 months following discharge.