Archive of clinical cases最新文献

Patients with relapsing-remitting multiple sclerosis should be offered disease-modifying therapies as part of their management. Recommended options include integrin antagonist therapy including natalizumab as well as anti-CD20 monoclonal antibodies like, ocrelizumab, rituximab, ofatumumab, and ublituximab. These therapies reduce relapse rates and slow brain lesion accumulation. Disease-modifying therapies selection may depend on patient preferences, potential fetal harm, and specific drug risks, requiring continuous monitoring via tracking clinical relapses and new MRI brain lesions. Natalizumab carries a risk of progressive multifocal leukoencephalopathy, particularly in anti-JCV antibody-positive patients, necessitating regular monitoring. Ocrelizumab, rituximab, and ublituximab are associated with an increased risk of infections (especially respiratory and skin infections), infusion reactions, and hypogammaglobulinemia. Ocrelizumab additionally poses a heightened risk of immune-mediated colitis and breast cancer, and it is contraindicated for patients with active hepatitis B due to the risk of viral reactivation. Ublituximab has been noted to be linked to potential fetal harm. We report the case of a 42-year-old male with relapsing-remitting multiple sclerosis on ocrelizumab who developed persistent fever and shortness of breath, two weeks after his last ocrelizumab dose. Despite antibiotic treatment for suspected pneumonia, his symptoms persisted. A chest CT scan revealed multifocal ground-glass opacities suggestive of organizing pneumonia, likely secondary to ocrelizumab. The patient's condition improved with high-dose corticosteroids, underscoring the importance of vigilance for extremely rare ocrelizumab-associated pulmonary side effects and the need for prompt, appropriate intervention.

Common bile duct duplications represent exceptionally rare congenital anomalies of the biliary tract. In this case report we document an unusual variant of common bile duct duplication in a 79-year-old man who underwent a pancreaticoduodenectomy for ampullary cancer. The duplication consisted of two unseparated, completely-layered, common bile ducts which originated above the cystic duct junction and terminated prior to the point of insertion into the pancreas, where the two lumens converged into a single duct. Duplication of the bile duct is rare and often goes undetected. In the present case, the anomaly was found incidentally in a patient who had a pancreaticoduodenectomy for an ampullary carcinoma. However, duplication may be associated with choledocholithiasis, cholangitis, pancreatitis, and pancreaticobiliary malignancies and it is important to be aware of the condition.

Mediastinal tumors are exceedingly rare during fetal development, presenting significant diagnostic challenges and potentially leading to severe outcomes such as stillbirth or metastatic disease if not promptly identified and managed. Pleuropulmonary blastomas are primitive mesenchymal tumors often linked to mutations in the DICER1 gene, indicating a hereditary pattern associated with other common adult neoplasms with dominant inheritance. This report describes a case involving a 20-year-old Caucasian woman whose pregnancy was complicated by a stillbirth in the second trimester. Initial suspicions of a mediastinal tumor arose from blood tests and ultrasound examinations during pregnancy surveillance. However, the definitive diagnosis of a type II pleuropulmonary blastoma was established through a pathological examination at autopsy. This case underscores the complexities of diagnosing fetal mediastinal tumors and contributes to the sparse literature on neonatal pleuropulmonary blastomas. Our comprehensive review of the differential diagnoses and literature emphasizes the unique characteristics of pleuropulmonary blastoma and its similarities to other soft tissue sarcomas, enhancing understanding of their clinical and genetic profiles.

As the number of pacemaker insertions increases to manage numerous cardiac arrhythmias, the number of complications is also increasing as a result. More common complications such as infection and lead displacement are routinely discussed with patients before they undergo the procedure. However rare complications such as superior vena cava syndrome are not discussed during the consenting period. But they do occur, as seen in this case of a 69-year-old male. This fit and active man had a right-sided dual-chamber pacemaker inserted due to sinus node disease and presented 5 years later with symptoms suggestive of superior vena cava obstruction (SVCO). Despite anticoagulation and before surgical intervention could be performed, the patient developed a right-sided chylothorax which was drained. An autologous pericardial patch repair of the SVC and a thrombectomy of SVC clots was subsequently performed. This was only partially successful and the SVCO recurred. A low fatty chain diet was initiated to manage the chylothorax, which remains stable. This rare complication has left the patient with a small pleural effusion and chronic pleural thickening. They can still exercise with mild breathlessness. The management of such a complication, which requires the input of many specialists, is challenging and often does not completely resolve all symptoms. For this reason, superior vena cava obstruction should be considered as a risk during the consenting procedure for a pacemaker insertion.

Atrial fibrillation, the most common cardiac arrhythmia in the Western world, confers a 5-fold increase in stroke, mainly due to thrombus formation in the left atrial appendage. Early rhythm control is often beneficial in reducing adverse cardiovascular events in higher-risk populations. Here, we present a patient who was found to have a 1 cm stalk-like lesion in the left atrial appendage on transesophageal echocardiogram prior to electrical cardioversion. Using multiple cardiac imaging modalities, including cardiac magnetic resonance imaging and computed tomography, the mass was eventually determined to be a chronic resolving thrombus.

Transcatheter aortic valve replacement (TAVR) is the percutaneous alternative to traditional surgery. Infective endocarditis is a fatal complication of TAVR, especially in the elderly. A 65-year-old male with a history of valve-in-valve TAVR presented to our emergency room with altered mentation. On examination, he was febrile. Laboratory investigations and echocardiography suggested infective endocarditis. Explantation and surgical aortic valve replacement were planned. The biopsy of the prostheses showed acute inflammation. Transcatheter prosthetic valve endocarditis warrants early diagnosis, particularly in the elderly. Our case emphasizes the importance of the prompt inclusion of endocarditis in the differential and surgical referral.

Infection with SARS-CoV-2 has been shown to predispose to thromboembolic events. The risk of such thromboses further increases in those with underlying inherited or acquired prothrombotic states. The authors present a 30-year-old lady who developed acute abdominal pain, three days after recovery from a mild COVID-19 infection. She was also using oral contraceptive pills. Laboratory investigations revealed elevated inflammatory markers, and a contrast-enhanced abdominal CT scan demonstrated portal vein thrombosis (PVT). Due to the unusual site of thrombosis, a thrombophilia screen was performed, which detected a heterozygous Factor V Leiden mutation (FVL). Thus, her PVT was attributed three simultaneous risk factors, namely COVID-19 infection, OCP use and FVL mutation. She was initiated on anti-coagulation, with which she improved significantly. In patients presenting with thromboses at uncommon sites, investigation for evidence of recent Covid-19 infection and screening for inherited and acquired thrombophilia should be considered, while discontinuing any offending medications.

Internal hernias in preterm neonates, although rare, can arise due to various anatomical and physiological factors associated with prematurity. We report a case of a preterm infant with symptoms of suspected necrotizing enterocolitis (NEC) that turned out to be an internal hernia during surgical exploration. Given the overlapping symptoms, it is crucial to maintain a high index of suspicion and utilize the appropriate imaging techniques, such as ultrasound or radiographic studies, to aid in the differentiation between NEC and internal hernia, especially when responding to cases that do not improve with standard NEC management or exhibit atypical features. Early recognition and accurate differentiation are crucial for appropriate management and prevention of complications in affected neonates.

Mixed depressive states are defined by the co-presence of depressive and manic symptoms. They represent extremely variable conditions from the point of view of clinical expressiveness and are difficult to recognize, ranging from clear schizophrenic-like psychoses and pseudodemented pictures to subsyndromal psychopathology. At the basis of the extreme variability of depressive pictures with mixed features are the different combinations that depressive and manic symptoms can assume. Furthermore, the intensity of depressive symptoms and manic symptoms, combined, can be variable, a factor that contributes to making the picture even more variable. Each form of mixed depressive state therefore presents its own specific symptomatic characteristics and specific difficulties in differential diagnosis and each form requires a different therapeutic strategy. In this work we have distinguished four possible specific subtypes of mixed depressive states, describing their specific clinical presentation and the therapeutic options most supported by the literature with the aim of contributing to a better recognition of mixed depressive states, to avoid incorrect diagnoses at patient and treatments that are useless if not worsening.

Type 1 diabetes mellitus (T1DM) is a chronic condition characterized by pancreatic autoimmunity and destruction of the insulin producing beta-cells. The risk of familial type 1 diabetes (FT1DM) is greater in families with paternal T1DM. The children with paternal FT1DM have a more severe form of the disease with diabetic ketoacidosis. Three families with FT1DM, out of which two with paternal diabetes and daughters diagnosed with this disease, and one family with sibling FT1DM were evaluated between 2019-2021 in the Pediatric Diabetes and the Diabetes, Nutrition and Metabolic Departments of a tertiary hospital. Clinical, biological, and genetic evaluations were performed, together with an assessment of the gastrointestinal microbiota. The Romanian children with FT1DM had a more severe onset, a median of age at onset of 9 years old and a genetic predisposition with positive HLA DR3/R4, DQB1*02:01. The protecting allele, DPB1*04:01, was found only in the siblings with FT1DM. A gastrointestinal dysbiosis, characterized by pro-inflammatory bacteria, with high levels of Enterobacteriaceae and Candida, was observed in the gut microbiota. This is the first case series of FT1DM in Romanian patients that shows the presence of genetic determinants but also a pathological microbiota which may determine a more severe and an early-age onset of disease.