BMJ Case Reports最新文献

To achieve a definitive diagnosis of a fever of unknown origin (FUO), clinicians must consider infectious, autoimmune, neoplastic and other pathologies. While thorough history taking is crucial, it may not reveal the underlying aetiology behind the FUO. Several weeks of laboratory testing, imaging studies and advanced testing may be involved. We present the case of a woman in her 70s who came to her primary care provider with a primary complaint of FUO and describe the diagnostic steps, which identified a poorly differentiated, advanced non-small cell lung carcinoma. This case also highlights several missed diagnostic opportunities, including delayed imaging and diagnostic inertia, which contributed to the late identification of her underlying malignancy.

Immune checkpoint inhibitor (ICI) pneumonitis is a potentially life-threatening immune-related adverse event associated with ICI therapy across various malignancies. ICIs enhance antitumour immunity by targeting inhibitory cell surface receptors, but this can lead to immune-mediated tissue damage. Prompt recognition is critical, as symptoms are often nonspecific and overlap with infectious or malignant processes.Standard treatment involves discontinuation of ICIs and initiation of corticosteroids. However, optimal management of steroid-refractory cases remains unclear, with intravenous immunoglobulin (IVIG) considered a second-line option.We present a case of a patient with hepatocellular carcinoma on durvalumab and tremelimumab who developed severe ICI pneumonitis and acute hypoxic respiratory failure. Notably, the patient was treated with upfront pulse-dose corticosteroids and IVIG-a combination not currently described in the literature. The patient's rapid clinical improvement without the need for intubation suggests this approach may be effective and warrants further investigation.

Air embolism is a rare but potentially fatal complication of pleural drainage. We present a case of a late elderly man who developed a cerebral air embolism shortly after the removal of a chest drain inserted for empyema, in a setting without positive pressure ventilation. This resulted in a catastrophic neurological deterioration and death. The case highlights the importance of recognising air embolism as a differential in post-drain removal collapse, understanding its proposed mechanisms, and considering preventative measures. This report contributes to the limited literature on air embolism following chest drain removal and underscores the need for vigilance during all stages of pleural drainage management.

A young woman (G4P2L0A1) diagnosed with a case of Takayasu arteritis (Type IV) and a history of recurrent pregnancy loss presented at 7 weeks of gestation with chronic hypertension. She was on immunosuppressive and antihypertensive therapy preconceptionally. At 29 weeks, she developed a hypertensive emergency with stage 2 fetal growth restriction. Despite aggressive management, blood pressure (BP) remained elevated (up to 200/110 mm Hg). A preterm caesarean section was performed at 31 weeks under steroid cover, resulting in the delivery of a 1.45 kg male neonate. Both mother and baby had uneventful recoveries, and the patient achieved the target BP by discharge.

A previously healthy woman in her late 40s presented with rapidly progressive sepsis 4 days after a dog bite. She developed disseminated intravascular coagulation, pancytopenia and acute kidney injury, ultimately progressing to complete anuria and dialysis dependence. Blood cultures confirmed Capnocytophaga canimorsus bacteraemia. Despite an initial clinical improvement with antibiotics and supportive care, she developed sudden isolated haemolysis and persistent thrombocytopaenia. Laboratory and renal biopsy findings confirmed the presence of a thrombotic microangiopathy (TMA), and complement-mediated haemolytic uraemic syndrome (CM-HUS) was diagnosed. Following plasma exchange and initiation of eculizumab therapy, haematological remission was achieved, and her kidney function partially recovered.This case highlights C. canimorsus infection as a rare trigger of CM-HUS in immunocompetent adults and outlines the patient's diagnostic workup, the challenges of differential diagnosis and the complexity of both the clinical course and therapeutic approach in case of TMA following sepsis. .

A female patient in the 70s presented with bilateral flank pain and haematuria. Evaluation confirmed tuberous sclerosis complex (TSC) with cutaneous findings, a giant renal angiomyolipoma (AML) in the patient's left kidney with a bleeding pseudoaneurysm, and a large mass in the right kidney containing distinct AML and high-grade renal cell carcinoma tumours. Situs inversus totalis was noted. Transarterial embolisation controlled the haemorrhage from the left kidney, followed by open partial nephrectomy on the right kidney to address the malignancy while preserving renal function. Everolimus was initiated post discharge to manage residual AMLs and lymphangioleiomyomatosis. Histopathology confirmed dual pathology in the right kidney. The patient recovered well, with stable renal function and resolved haematuria at 6 months. This case underscores the need for comprehensive imaging, histopathological confirmation and nephron-sparing strategies in managing complex renal pathologies in TSC, particularly with anatomical anomalies such as situs inversus.

Intussusception is a common cause of abdominal pain and bowel obstruction in infants and children. Colocolic intussusception is a rare form, for which diagnostic imaging should be critically reviewed for identification of a lead point. This is the case of a young child who presented with abdominal pain and was found to have colocolic intussusception. Complete reduction was achieved with a pneumatic enema followed by a contrast enema. A pathological lead point was suspected based on radiological findings during reduction. A colonoscopy revealed a solitary, large juvenile polyp in the descending colon and a complete polypectomy was performed endoscopically. Both endoscopic and surgical management are viable treatment options for colocolic intussusception when a lead point is identified.

Intestinal volvulus during pregnancy is a rare and potentially severe cause of bowel obstruction, associated with high maternal and fetal morbidity and mortality. Diagnosis is challenging due to nonspecific symptoms, requiring a high index of suspicion. We report a primigravida in her late 30s diagnosed with sigmoid volvulus at 25 weeks of gestation, initially treated successfully with endoscopic decompression. Recurrence occurred at 36 weeks, leading to an urgent caesarean section with sigmoidopexy, achieving excellent maternal and fetal outcomes. This case emphasises the diagnostic challenge of these acute conditions in pregnancy and underscores the need for early recognition and a coordinated multidisciplinary approach to optimise maternal-fetal outcomes.

Klippel-Feil syndrome (KFS) is a rare congenital disorder characterised by the fusion of the cervical vertebrae. We report the case of an early adolescent patient who presented with acute dizziness, vomiting, slurred speech and left-sided hemiparesis following neck movements. Imaging revealed craniocervical anomalies (including atlanto-occipital assimilation and C2-C3 fusion) and severe vertebrobasilar artery stenosis/occlusion, which led to acute ischaemic infarcts in the cerebellum and pons. Notably, the patient lacked the classical short-neck phenotype. The patient was diagnosed with KFS and a posterior circulation stroke. The patient showed significant improvement with antiplatelet therapy, anticoagulation and rehabilitation. This case underscores the fact that KFS can present with life-threatening stroke even in the absence of typical clinical features, highlighting the importance of early imaging and a multidisciplinary approach.