BMJ Case Reports最新文献

A patient developed several weeks of progressive bilateral sensorineural hearing loss, initially suspected to be an ischaemic stroke due to right parietal diffusion restriction on MRI. However, the persistence and progression of symptoms, including left upper extremity weakness, word deafness and cognitive decline, were inconsistent with a vascular event. Repeat imaging revealed expanding cortical ribboning without infarct evolution. Extensive workup ruled out stroke, autoimmune encephalitis, infection and seizure-related processes. Cerebrospinal fluid analysis demonstrated significantly elevated 14-3-3 and T-tau proteins, making sporadic Creutzfeldt-Jakob disease probable. This case illustrates how early prion disease can mimic stroke radiographically and clinically, underscoring the importance of reconsidering the diagnosis when neurological deficits progress rapidly and atypically.

We report a case of a man in his early 70s with paroxysmal atrial fibrillation who developed acute upper limb ischaemia following intravenous thrombolysis (IVT) for acute ischaemic stroke. The patient presented with left-sided weakness and was treated with alteplase, after which he experienced left arm ischaemia. Imaging revealed a left axillary artery occlusion and a left atrial appendage thrombus, suggesting embolisation. Simultaneous mechanical thrombectomy was performed for both the intracranial and axillary artery occlusions, successfully restoring perfusion. This case highlights the risk of thromboembolic complications following IVT and demonstrates that devices used for intracranial thrombectomy can be effectively used for peripheral artery embolectomy. It emphasises the need for early recognition, advanced imaging and prompt intervention to optimise patient outcomes.

A married woman in her early 30s presented with 2 months of dry cough, progressive dyspnoea and weight loss. Imaging revealed massive right pleural and severe pericardial effusions with a large anterior mediastinal mass. Initial lymphocyte-predominant exudative effusion suggested tuberculous pleuritis, but cytology was inconclusive. Thoracoscopic pleural biopsy with immunohistochemistry showed TdT-positive and CD7-positive lymphoid cells, establishing a diagnosis of T-lymphoblastic lymphoma (T-LBL) involving the pleura, pericardium and mediastinum. She received acute lymphoblastic leukaemia-type multi-agent chemotherapy and remains well, with no recurrence of effusion on follow-up. This case highlights the diagnostic challenge of distinguishing rare lymphomas from common infections in tuberculosis-endemic regions and underscores the necessity of early tissue diagnosis with immunophenotyping when faced with unexplained large pleuro-pericardial effusions. Prompt recognition is crucial because T-LBL requires intensive ALL-type therapy, which significantly improves survival compared with conventional lymphoma regimens.

The American College of Medical Genetics and Genomics (ACMG) and other professional organisations recommend whole exome sequencing (WES) as a first-tier genetic test for paediatric patients with congenital anomalies, developmental delay and/or intellectual disability, which has contributed to rapidly increasing rates of genetic testing and diagnosis in this population. We present a case of Rett syndrome diagnosed in early childhood following an atypical presentation of the condition with no regression using WES. This diagnosis was facilitated by a multidisciplinary outpatient neurodevelopmental genetics programme. Non-genetics providers trained in consent for genetic testing allowed for ample access to a comprehensive genetics work-up. The subsequent diagnosis of Rett syndrome qualified this patient for additional resources, novel interventions and family support.

Immune checkpoint inhibitors (ICI) have revolutionised pharmacological chemotherapy for various malignant neoplasms. The side effects of ICIs are still being fully understood. We present a case of a male patient in his mid-50s with a history of metastatic renal cell carcinoma ultimately diagnosed with bilateral epididymo-orchitis (EO) following pembrolizumab maintenance treatment. Our report adds to the three identified cases of EO linked to immune checkpoint inhibitors. This rarely reported association should serve as a cautionary tale for future clinicians about the possible side effects of these immune-enhancing medications.

Smegmatic pseudocysts are a source of clitoral pain and dyspareunia, contributing to sexual dysfunction. Its presentation as a large, painful clitoral mass and its non-surgical management have not been described. A patient in her 40's presented with clitoral pain, dysuria, dyspareunia, and a 2-cm clitoral mass. On examination, the mass was found to be a smegmatic pseudocyst collection and was expressed safely. The smegma also returned positive for Pseudomonas aeruginosa She completed a 7-day course of levofloxacin, and at subsequent follow-ups, her pain resolved. For prevention, she was counseled on appropriate hygiene and topical estrogen use. With this presentation, a thorough physical examination is warranted to rule out smegmatic pseudocysts. Once superinfection has been confirmed, treatment with the appropriate antibiotics can help with symptomatic relief. Additionally, in-office expression can be considered for immediate pain relief. Infected smegmatic pseudocysts can be safely managed conservatively, reducing unnecessary surgical procedures for removal.

A middle-aged woman with a 6-year history of stable inflammatory bowel disease (IBD) presented with progressively worsening abdominal pain, increased stool frequency and rectal bleeding. Colonoscopy revealed patchy inflammation in the descending colon, and PCR testing detected 6961 copies/mL of Epstein-Barr virus (EBV) DNA in inflamed tissue. Initial treatment with steroids and azathioprine led to partial improvement, but azathioprine had to be discontinued due to significant adverse effects. A follow-up colonoscopy demonstrated persistent inflammation, despite declining EBV DNA levels in inflamed tissue prompting the initiation of infliximab with initial improvement. However, symptoms recurred within months and secondary infliximab failure was confirmed on therapeutic drug monitoring. The patient was subsequently switched to vedolizumab and has since shown good clinical response. This case underscores the potential utility of routine EBV viral load monitoring in patients with refractory IBD and highlights the complexities of managing EBV-associated colitis with standard immunosuppression.

Endobronchial ultrasound with transbronchial needle aspiration (EBUS-TBNA) is a commonly performed safe diagnostic procedure, though complications such as pneumomediastinum and surgical emphysema are rare. In this report, we describe the case of a male in his early 50s diagnosed with hypersensitivity pneumonitis who developed these complications following an EBUS-TBNA and fibreoptic bronchoscopy procedure. The patient's condition was promptly recognised and managed conservatively, leading to a rapid recovery within 24 hours. This case emphasises the need for clinical vigilance, even with routine procedures, especially in patients with interstitial lung diseases.

Tumours within the pulmonary arteries provide a diagnostic challenge due to their similar appearance to pulmonary emboli. Often, the decision to sample is multidisciplinary and the best approach to take is often unknown. Here we describe a case of urothelial carcinoma which metastasised to the mediastinum with evidence of tumour burden within the pulmonary artery. Sampling of this by endovascular and thoracoscopic means was unsuccessful; however, we were able to provide a diagnosis using direct visualization with endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA). This report is the first of a central pulmonary artery tumour caused by urothelial carcinoma biopsied by EBUS-TBNA in the English literature. We describe the diagnostic challenges and steps in evaluating suspected tumour emboli with a focus on transbronchial needle aspiration.