2021: Vol 8 No 8
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Mixed cryoglobulinaemia vasculitis (MCV) is a systemic vasculitis of the small and medium-size vessels caused by active hepatitis C (HCV) infection in >80% of cases. Beuthien et al. presented the first case of MCV with undetectable HCV after 10 months of therapy. In the last few years, more authors have described other cases of symptomatic MCV after 1 year of persistent HCV eradication. Here, we present a case report of a 57-year-old man who developed MCV with renal involvement after 3 years of HCV eradication with interferon therapy.
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Introduction: Vaccination against COVID-19 is essential to control the pandemic. The vaccines developed so far have good safety profiles but full knowledge of adverse effects will only be acquired with time and through case reports.
Case Description: We present the case of a man admitted with rhabdomyolysis 3 days after receiving his first dose of the Pfizer coronavirus vaccine Comirnaty® Other traumatic, infectious, endocrine, electrolyte disturbance and autoimmune causes of rhabdomyolysis were excluded. The temporal relationship between vaccine administration and disease onset indicated possible causality. The patient had a favourable evolution after receiving fluids and completely recovered. To our knowledge, there have been only 69 reports of rhabdomyolysis following Comirnaty® administration in Europe, as stated by the European Medicines Agency, and this is the first case report in Portugal.
Discussion: When a patient presents with rhabdomyolysis without an obvious traumatic or exertional cause, other aetiologies need to be excluded. Drug use is one of the most common causes of rhabdomyolysis in adults.
Conclusion: We present a case compatible with an adverse effect of Comirnaty® in order to raise awareness of this condition in vaccinated patients.
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Severe haemolytic anaemia is a rare complication of haemodialysis that is often difficult to recognize, especially when there are other potential differential diagnoses. Here, we present the case of 19-year-old man on haemodialysis who developed severe haemolytic anaemia while recovering from acute renal failure secondary to rhabdomyolysis. Other causes of haemolytic anaemia such as thrombotic thrombocytopenic purpura and haemolytic uraemic syndrome were ruled out. As his blood counts were dropping on days following haemodialysis, haemolysis secondary to the mechanical sheering effect of the catheter was considered and his haemodialysis catheter was exchanged, which led to the resolution of anaemia.
Pulmonary Embolism in Autosomal Dominant Polycystic Kidney Patient Induced by Inferior Vena Cava Mechanical CompressionViews: 639 HTML: 157 PDF: 252
Introduction: Autosomal dominant polycystic kidney disease is a common syndrome. Renal and hepatic cysts can cause discomfort, bleeding, rupture, infection, hypertension and a mass effect with compression of adjacent organs.
Case presentation: A 48-year-old man with polycystic kidney disease and hypertension presented to the emergency department for bilateral flank pain. An abdominal computed tomography scan with contrast showed a 7 cm heterogeneous process posteriorly and laterally to the right kidney. It appeared to be a renal cyst associated with bleeding and bilateral pulmonary artery filling defects, apparently due to pulmonary embolism. Cavography following inferior vena cava filter insertion did not show any deep vein thrombosis.
Discussion and conclusion: The pulmonary embolism was probably caused by extrinsic inferior vena cava compression by a liver cyst. Virchow's triad of stasis, vessel damage and hypercoagulability probably resulted in a thrombus which moved on the right side to the pulmonary artery.
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The development of Clostridium difficile infection in COVID-19 patients is an understudied complication of the disease. Herein, we present the case of a 46-year-old man who developed severe healthcare-associated C. difficile infection leading to toxic megacolon and perforation in the setting of COVID-19 infection. It is important to continue to follow guidelines regarding antibiotics in healthcare settings to prevent such complications.
Giant Metastatic Breast Phyllodes Tumour with an Elusive Diagnosis: A Case Report and Literature ReviewViews: 629 HTML: 152 PDF: 276
Background: The term phyllodes tumours, which account for less than 1% of breast neoplasms, describes a spectrum of heterogenous tumours with different clinical behaviours. Less than 30% present as metastatic disease. Complete surgical resection is the standard of care so that recurrence rates are reduced. The role of adjuvant chemotherapy or radiation therapy is controversial. Patients with metastatic disease have a median overall survival of around 30 months.
Case description: The authors present the case of a 57-year-old woman with an exuberant left malignant phyllodes tumour with bilateral involvement, as well as lung and axillar metastasis. The patient underwent haemostatic radiation therapy and started palliative chemotherapy with doxorubicin, achieving partial response with significant improvement in quality of life. A posterior simple mastectomy revealed a small residual tumour.
Discussion: Metastatic malignant phyllodes tumours are rare, so therapeutic strategies rely on small retrospective studies and guidelines for soft tissue sarcoma. Palliative chemotherapy protocols include anthracycline-based regimens, either as monotherapy with doxorubicin or doxorubicin together with ifosfamide. With few treatment options, management of these patients must rely on a continuum of care
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A new trend of myocarditis among young adults who received mRNA vaccines for COVID-19 is emerging. We present the case of a young adult who presented with chest pain 3 days after the second dose of Pfizer-BioNTech COVID-19 vaccine. He had elevated troponin I and C-reactive protein levels at the time of admission. Electrocardiogram (ECG) and echocardiogram findings were unremarkable. The patient improved with conservative management and was discharged home the next day.
Hyperosmolar Hyperglycaemic State and Diabetic Ketoacidosis in Nivolumab-Induced Insulin-Dependent Diabetes MellitusViews: 740 HTML: 96 PDF: 400
Nivolumab is a monoclonal antibody directed against programmed cell death-1 receptor. It has an increasing application in the treatment of various advanced metastatic cancers. The incidence of autoimmune side effects associated with such agents is expected to increase. New-onset autoimmune diabetes mellitus associated with immune checkpoint inhibitor treatment is rare, occurring in less than 1% of patients. Nivolumab-induced diabetes often presents as diabetic ketoacidosis, which could be life-threatening if not recognized and treated promptly. We present the case of a patient who developed severe diabetic ketoacidosis concomitant with hyperosmolar hyperglycaemic state (HHS) after receiving nivolumab for metastatic testicular lymphoma. Pre-nivolumab blood glucose levels were normal, apart from transient hyperglycaemia related to steroids as part of the chemotherapy protocol. The diagnosis was confirmed with extremely low C-peptide in the clinic.
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Cryptococcus neoformans is an encapsulated, yeast-like fungus that commonly lives in the environment due to soil contamination by the faeces of birds, especially pigeons. Cryptococcus is an opportunistic fungal infection frequently diagnosed in immunocompromised patients with HIV, steroid use, malignancy, history of organ transplantation, or, rarely, sarcoidosis. There have been only a few reports of cryptococcus infection in sarcoidosis patients who were not on steroid treatment. Here, we highlight the importance of considering opportunistic fungal infection in asymptomatic treatment-naive sarcoidosis patients. We present a patient with a history of asymptomatic, treatment-naive sarcoidosis who presented with headache and was diagnosed with cryptococcal meningitis in the presence of an idiopathic T-cell lymphopenia.
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Gorham-Stout disease (GSD) is a rare clinical entity of unknown aetiology, with osseous resorption, vascular structure proliferation and inflammation of adjacent soft tissues. The clinical spectrum varies from asymptomatic patients to patients with pain, functional limitation or deformity. GSD may affect 1 or multiple bones in any location; however, predilection for the maxillofacial area and upper limbs has been described. We present the case report of a 33-year-old male patient with facial pain and loss of dental pieces; imaging showed extensive lytic involvement of the mandible and cranial bones. After exclusion of malignant, metabolic, infectious, or autoimmune disease, a diagnosis of GSD was made. Treatment with sirolimus was prescribed, achieving a symptomatic improvement and stability of imaging findings. The importance of the knowledge of this orphan disease is highlighted, to achieve a prompt diagnosis and medical treatment.
Complete Response to Afatinib of an EGFR Exon 18 delE709_T710insD-Mutated Stage IV Lung AdenocarcinomaViews: 485 HTML: 115 PDF: 290
Introduction: Epidermal growth factor receptor (EGFR) mutations are frequently found in patients with lung adenocarcinomas, 90% being deletions in exon 19 or point mutation in exon 21. Three generations of tyrosine kinase inhibitors (TKIs) targeting EGFR mutations are available and have changed patient prognosis but less data is available on exon 18 mutations and their sensitivity to TKI therapy. Exon 18 delE709_T710insD accounts for 0.06% (16/27,294) of all EGFR mutations and is an oncogenic driver. Several partial responses to afatinib have been described.
Case description: We report the first case, to the best of our knowledge, of the complete response to afatinib of a 57-year-old patient with stage IV lung adenocarcinoma with a delE709_T710insD mutation in the EGFR gene detected by next-generation sequencing. Oral afatinib was prescribed and despite treatment interruptions and dosage tapering due to cutaneous adverse events, a complete response was achieved 12 months after treatment initiation and is currently maintained at 17 months.
Conclusion: When EGFR mutation is suspected, complete DNA sequencing of exons 18 to 21 should be carried out and we suggest that afatinib should be the first-line treatment for exon 18 delE709_T710insD-mutated advanced lung adenocarcinomas.
A Life-Threatening Presentation of Primary Small Cell Colorectal Non-Hodgkin Lymphoma as Cardiac Tamponade and Its Challenging ManagementViews: 503 HTML: 46 PDF: 232
Colorectal NHL is quite aggressive and rare, forming only less than 1% of all cases of colorectal cancer. The pericardium is an extremely rare first site of metastasis. Cardiac tamponade can be a life-threatening initial presentation. We report a 55-year-old lady who presented with severe shortness of breath, intermittent abdominal pain and altered bowel habits. She had low blood pressure with congested neck veins. Her echocardiogram showed pericardial and cardiac infiltration with tumour mass; a large pericardial effusion with signs of cardiac tamponade. There was no safe window for percutaneous drainage, and the patient was not physically fit for surgical drainage. A multidisciplinary approach was used to diagnose and manage the case involving a cardiologist, gastroenterologist, pathologist, radiologist and oncologist. CT scans of the whole body showed a large rectosigmoid mass infiltrating the uterus and adnexa. Flexible sigmoidoscopy showed a large bleeding mass at the rectosigmoid junction. The biopsy confirmed small cell non-Hodgkin lymphoma (NHL). Urgent three cycles of chemotherapy were commenced over a period of 5 weeks ( one cycle of CVP; two cycles of CHOP). The patient showed significant symptomatic improvement. A five-week follow-up echocardiogram showed that the d pericardial tumour had disappeared and only a small rim of pericardial effusion. Effusion did not recollect in her follow-up echocardiography. A year later, she was referred to the palliative care team due to the further spreading of her lymphoma. In conclusion, colorectal small cell NHL might initially present as cardiac tamponade. Urgent initiation of chemotherapy can be a treatment option whenever a drainage procedure is unsafe.
Intoxication by Hand-Sanitizers and other Toxic Alcohols in a Low-Resource Setting: Two Case ReportsViews: 521 HTML: 61 PDF: 244
Toxic alcohol poisoning can be lethal if not identified early and treated appropriately. Toxic alcohol assays are often unavailable in low-resource setting, so clinicians have to infer a diagnosis based on suspicion, repeated evaluation and biochemical course. We report a case of toxic alcohol poisoning concealed by auto-intoxication with in-hospital hand sanitizer. The eventual appearance of a concurrent high anion gap prompted dialysis. In another case, a comatose patient presented with a high osmolal gap and a high anion gap. Incorrect a priori opinions caused us to defer dialysis and the patient died shortly afterwards. Clinicians should be aware that toxic alcohol poisoning can produce a confusing diagnostic picture with an insidious course, and that doctor delay can prove fatal.
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Hypoplastic coronary artery disease is a rare congenital anomaly that may present with ischaemic heart disease, heart failure or sudden cardiac death (SCD). We describe a case of cardiac arrest in a healthy young man. Work-up revealed a hypoplastic left anterior descending artery. The patient underwent cardioverter-defibrillator implantation for secondary prevention.