2021: Vol 8 No 3

Sulfonylurea monotherapy is the standard treatment for patients with the most common form of permanent neonatal diabetes, KCNJ11 neonatal diabetes, but it is not always sufficient. For the first time, we present a case of successful use of a GLP-1 receptor agonist as add-on therapy in the treatment of a patient with KCNJ11 neonatal diabetes and insufficient effect of sulfonylurea monotherapy. Good glycaemic control was maintained with a HbA1c level of 48 mmol/mol (6.5%) at the end of 26 months’ follow-up.

Blood dyscrasias associated with levetiracetam use can be difficult to identify, especially when other potential differential diagnoses are concurrently present. Here we present a 57-year-old man with metastatic adenocarcinoma of unknown primary origin on levetiracetam who initially presented with an in-stent thrombosis of the right external iliac vein and then developed worsening thrombocytopenia followed by pancytopenia. Levetiracetam was not identified as the culprit until other causes like platelet consumption, heparin-induced thrombocytopenia, idiopathic immune thrombocytopenic purpura, and bone marrow involvement by metastatic disease were ruled out.

Case Description: TA 28-year old woman receiving thiopurine treatment for Crohn’s disease presented with a systemic primo cytomegalovirus (CMV) infection affecting the gut (colitis), liver (hepatitis), lungs (pneumonitis) and eyes (retinitis). Secondary to this systemic infection, she developed splenomegaly, pancytopenia and lymphadenopathy. Anti-viral treatment resulted in complete resolution of clinical, biochemical and radiological abnormalities within 6 weeks. 
Conclusion: Early recognition is crucial since CMV infection in a patient receiving thiopurine treatment may result in serious complications.

Background: Multimodality imaging of a cardiac mass lesion may raise suspicion of a primitive cardiac lymphoma (PCL). However, a definitive diagnosis requires histopathological confirmation.

Methods: This report describes the methodology we used to perform biopsy sampling of a cardiac mass lesion affecting a 45-year-old man. In order to increase endomyocardial biopsy diagnostic accuracy, we used pre-acquired cardiac magnetic resonance (CMR) images to guide the bioptome on a cardiac site overtly infiltrated by the suspected tumour. The right ventricular outflow tract was identified as the target site for biopsy sampling. To reduce the risk of the procedure, the biopsy was performed at a safe distance from the tip of a diagnostic quadripolar catheter positioned at the level of the pulmonary valve, previously identified by pacing manoeuvres. The reported approach demonstrated safety and diagnostic accuracy, allowing the identification of an extremely rare PCL subtype of T-cell origin.

Conclusion: Biopsy sampling of a suspected tumour may be safely and accurately performed using pre-acquired CMR images to guide the bioptome on the target site.

Colonic pseudo-obstruction is characterized by dilatation of the colon without a structural lesion causing the obstruction. It usually involves the caecum and right side of the colon and is commonly observed in patients with severe illness or after surgery; it is rarely caused by pheochromocytoma. 
The diagnosis of colonic pseudo-obstruction can be established by abdominal imaging including computed tomography (CT) of the abdomen or use of a water-soluble contrast enema. In additional to conservative or surgical treatment, alpha-blockers can be used in this setting to relieve the pseudo-obstruction.

Cysticercosis is a parasitic infection caused by larval cysts of the tapeworm Taenia solium. It is highly prevalent in rural areas of developing countries with poor sanitary conditions. We report a rare case of extensive disseminated cysticercosis in a 98-year-old woman who was brought to the emergency department following a fall. The x-ray revealed numerous ‘rice grain’ calcifications predominantly oriented in the plane of muscle fibres. A broad review revealed pelvic, chest and inferior limb involvement. The findings were consistent with cysticercosis.

Lipoma of the pancreas is a rare benign tumour which is usually discovered incidentally on imaging. We present a case of an incidentally discovered pancreatic lipoma in a 79-year-old man with non-metastatic prostate adenocarcinoma who was referred to radiology for follow-up imaging. Fat-containing tumours originating from the pancreas are very rare. Most lipomas show characteristic features on imaging that allow their differentiation.

We present the imaging features of a pancreatic lipoma on ultrasound, CT and MRI, discuss the differential diagnosis, and provide a brief review of the literature.

This is the first case report of a patient with post-COVID-19 postural orthostatic tachycardia syndrome (POTS) with multiple persistent antiphospholipid antibody (aPL)-positivity more than a year after illness onset who also meets Global Consensus-2 criteria for mast cell activation syndrome (MCAS), suggesting pathological activation of the acquired and innate immune systems by SARS-CoV-2. While the patient continues to meet criteria for POTS 1 year on, her functional ability has improved significantly with therapy directed at MCAS, POTS and aPL-positivity.

Coronavirus disease 2019 (COVID-19) has overwhelmed healthcare globally with millions of cases and over 2 million deaths worldwide. The hypercoagulable state associated with COVID-19 is a well-recognized complication that carries a poor prognosis. Marantic endocarditis, or non-bacterial thrombotic endocarditis (NBTE), is caused by a sterile vegetation on the cardiac valves resulting from the deposition of fibrin and platelet aggregates. It is highly associated with the hypercoagulable and acquired inflammatory states. Herein, we report a unique and rare case of COVID-19 presenting with NBTE.

A 54-year-old woman was admitted to the emergency department for an acute, fluctuating altered mental status and reduced perceptual awareness of her surroundings as well as disorganized thinking. Blood tests, including for drugs, were normal. A CT scan of the brain was normal. Magnetic resonance imaging and CT angiography of the supra-aortic vessels were both were consistent with moyamoya disease. The patient was hospitalized for further investigations.

Objectives: This is one of the few case reports of congenital inferior vena cava atresia (IVCA) with extensive bilateral lower extremity ulcers.

Background: IVCA is a congenital anomaly characterized by poor venous return in the lower extremities with increased risk of deep vein thrombi (DVTs) and, rarely, non-healing ulcers.

Results: A 45-year-old woman with history significant for DVTs presented with extensive bilateral lower extremity ulcers, and a CT scan revealed congenital IVCA. Oedema management, DVT prevention, routine wound care and skin grafts resolved the ulcers.

Conclusion: Congenital venous abnormalities should be included in the differential diagnosis of multiple unprovoked DVTs and non-healing ulcers.

Drug-induced liver injury (DILI) is the most common cause of acute liver failure in the Western world. In recent years, natural herbal and dietary supplements have become widely available to the general public and have increased in popularity. Reports of idiosyncratic liver injury caused by such supplements have also increased over the last decade.

Horse chestnut is a herb used in dietary supplements primarily for complications of venous insufficiency. Clinically significant acute liver injury has been very rarely associated with its use. We present the case of a 70-year-old man with idiosyncratic horse chestnut-induced liver injury.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is a novel coronavirus responsible for the current global pandemic, coronavirus disease 2019 (COVID-19). COVID-19 usually presents with respiratory symptoms but can affect multiple organ systems. A wide spectrum of complications can occur depending upon the comorbidities of patients. There is limited literature available regarding the presentation and outcome of COVID-19 in chronic lymphocytic leukaemia (CLL) patients. We report 2 cases of COVID-19-induced hyperleucocytosis (WBC count >100,000/?l) in CLL patients.

Introduction: Temozolomide is an alkylating agent, indicated in the treatment of refractory anaplastic astrocytoma and newly diagnosed glioblastoma. We describe a case of Salmonella typhimurium bacteraemia associated with septic arthritis in the setting of concurrent temozolomide use.

Case: A 67-year-old woman presented with acute onset of bilateral knee pain and swelling. She had a medical history of glioblastoma multiforme treated with temozolomide. Synovial fluid analysis and blood cultures revealed S. typhimurium, confirming a diagnosis of S. typhimurium bacteraemia associated with septic arthritis.

Conclusion: We conclude that chemotherapy with temozolomide and corticosteroid use will increase an individual’s susceptibility to a wide variety of opportunistic infections akin to HIV-associated acquired immunodeficiency syndrome (AIDS). Furthermore, we hypothesize a possible benefit of monitoring CD4 levels and prophylaxis against opportunistic infections (based on the CD4 levels) in individuals receiving temozolomide-based chemotherapy, similar to HIV-AIDS.

Background: The azygos venous system is an accessory venous pathway supplying an important collateral circulation between the superior and inferior vena cava (IVC). 
Case summary: We report a case of complicated community-acquired pneumonia with interruption of the IVC with azygos continuation that was misdiagnosed as lung neoplasm. 
Discussion: The aim of this case report is to emphasize the importance of recognizing an enlarged azygos vein at the confluence with the superior vena cava and in the retrocrural space to avoid misdiagnosis as a right-sided para-tracheal mass. The angiographic features and clinical importance of this condition are discussed.

Introduction: Myasthenia gravis is a rare autoimmune disease caused by autoantibodies directed against the synapses of the neuromuscular junction.

Patient and methods: We report the case of a young patient with myasthenia gravis associated with Hodgkin's lymphoma.

Results: A 22-year-old patient presented with a 2-month history of severe weakness associated with muscle fatigability and intermittent ptosis without dysphonia or respiratory signs. Clinical examination revealed generalized myasthenia. The EMG did not show post-synaptic block, and anti-acetylcholine receptor antibodies were elevated at 3 nmol/l (normal ?0.3 nmol/l). CT of the thorax showed an anterior medial mass. Immunohistochemistry of the mass revealed mixed cellularity Hodgkin’s lymphoma.

Conclusion: The association of lymphomas with myasthenia gravis has been rarely reported.

The coronavirus disease 2019 (COVID-19) pandemic has caused significant morbidity and mortality worldwide. While patients with COVID-19 most frequently present with pneumonia, respiratory failure and acute respiratory distress syndrome, increasing cases of immune-mediated disorders such as autoimmune thrombocytopenia, haemolytic anaemia and antiphospholipid syndrome have been reported. In this article we describe a rare case of cold agglutinin syndrome (CAS) in a patient with COVID-19. The patient was a 77-year-old man with a history of glucose-6-phosphate dehydrogenase (G6PD) deficiency who presented with COVID-19 infection and acute respiratory failure. Initially he was started on intravenous steroids, antibiotics and hydroxychloroquine. Laboratory analysis revealed haemolytic anaemia with a positive direct anti-globulin test (DAT) and high titres of cold agglutinins. Hydroxychloroquine was stopped due to suspicion of haemolysis due to G6PD deficiency but the haemolysis persisted. Unfortunately, the respiratory failure progressed and the patient died. In summary, this article describes a rare case of CAS associated with COVID-19. CAS is a heterogenous group of cold autoimmune haemolytic anaemias occurring secondary to infections or malignancies. No definite treatment for CAS in COVID-19 patients has been approved so far.

Thrombosis associated with pacemaker leads is extremely rare, although the literature on this subject is scarce. A clinical case is reported, describing this condition and its clinical presentation, the complementary tests for establishing the diagnosis and the available therapeutic options.

Before the development of transfusion medicine, severe anaemia was an important cause of morbidity and mortality. The discovery of haematopoietic mechanisms and essential nutrients made it possible to easily treat and prevent this condition. Nevertheless, it is often fatal in patients presenting with extreme anaemia (haemoglobin levels <2 g/dl). We report the rare case of a 54-year-old woman who presented with profound megaloblastic anaemia (haemoglobin of 1.7 g/dl) due to vitamin B12 deficiency, and was successfully treated.

We describe a 29-year-old male bodybuilder with recurrent attacks of myalgia and muscle weakness associated with hypokalaemia and thyrotoxicosis due to abuse of liothyronine. The attacks quickly resolved after potassium supplementation and liothyronine cessation. We concluded that the patient had thyrotoxic hypokalaemic periodic paralysis (TPP). Although muscle weakness and hypokalaemia are prominent symptoms of TPP, underlying thyrotoxicosis may be overlooked. Up to 25% of androgen abusers also abuse thyroid hormone. Lack of recognition of thyroid hormone abuse as a cause of hypokalaemic periodic paralysis may result in unnecessary, potentially harmful medical investigations and improper treatment and advice.

A 53-year-old man presented acutely to the Accident and Emergency department with a 2-day history of progressive odynophagia and shortness of breath. The patient had stridor at rest and acute epiglottitis was suspected. The patient was transferred urgently to theatre for intubation but due to a severely oedematous airway, this was unsuccessful and emergency tracheotomy was performed by the ENT team. Throughout admission the only positive microbiological sample was a nasopharyngeal swab for SARS-CoV-2 infection. In the absence of other positive microbiology, it is highly likely that COVID-19 was the aetiological cause of acute epiglottitis in this instance.

Paratesticular leiomyosarcomas are uncommon malignant tumors that originate from smooth muscle. Paratesticular leiomyosarcoma shows aggressive tumor behavior due to a high incidence of local recurrence and distant metastasis. The orbit metastasis is also rare and associated with a poor prognosis. Clinical suspicion plays an essential role in the diagnosis of orbital leiomyosarcoma due to uncommon presentation. Comprehensive neuroimaging and histopathological work-up warranted for definitive diagnosis and management. To date, surgical resection remains the best curative treatment. However, leiomyosarcomas are usually friable and unencapsulated, which makes surgery challenging. Also, whether adjunctive chemotherapy will alter the long-term prognosis remains to be determined. Herein, we report the case of a young male who presented with proptosis and decreased vision, subsequently diagnosed with metastatic orbital leiomyosarcoma from a primary paratesticular tumor. We performed orbital enucleation with negative margins. The patient is currently under systemic, systemic pazopanib chemotherapy.

Giant cell tumours (GCT) are rare aggressive non-cancerous tumours which usually affect the long bones. We describe a case of GCT of the first rib in a young woman without a relevant history. The patient presented a left cervico-thoracic mass which was biopsied in our department (CT-guided biopsy). She was referred to the thoracic surgery department after histological results.