BMJ Case Reports最新文献

Ectopic Cushing syndrome (ECS) occurs when a non-pituitary tumour secretes excess adrenocorticotropic hormone, leading to hypercortisolism. ECS is most commonly associated with small cell lung cancer and pancreatic neuroendocrine tumours, but rarely with oesophageal neuroendocrine carcinoma (NEC). We report the case of a man in the 60s initially treated for locally advanced large cell NEC of the oesophagus who later developed ECS. Oesophageal NECs account for less than 0.04% of all neuroendocrine tumours and carry a poor prognosis, with large cell subtype being particularly uncommon. Despite endocrine-directed therapy, the condition of the patient deteriorated rapidly due to aggressive disease. This case underscores the diagnostic challenges of ECS in rare tumour types and highlights the importance of early recognition and multidisciplinary management to optimise outcomes.

This case report documents an extremely rare presentation of primary uterine yolk sac tumour (YST) in a premenopausal woman in her late 40s, who presented with heavy menstrual bleeding. Imaging was suggestive of a uterine tumour with rising serum germ cell markers. In the absence of preoperative histology, a surgical staging was performed, confirming pathological diagnosis and immunohistochemistry (SALL4 and alpha-fetoprotein (AFP) positive). She received adjuvant chemotherapy as per protocol. With a short disease-free interval, she had a rise in serum AFP with recurrence in the lungs, which was successfully treated with second-line chemotherapy. This case uniquely highlights the importance of comprehensive tumour marker assessment, the role of marker-guided surveillance in early relapse detection, and demonstrates the feasibility of successful salvage therapy. The case expands current knowledge of extragonadal YST management, encourages vigilance for atypical presentations and underscores the value of individualised multimodality care-even in aggressive, relapsed disease-for achieving complete remission.

Cat scratch disease (CSD), caused by Bartonella henselae, is an uncommon cause of fever of unknown origin (FUO) and rarely presents with visceral organ involvement. This case report describes a middle-aged woman with 3 months of night sweats and 1 month of fevers. Initial workup showed elevated inflammatory markers, multiple splenic lesions and a pelvic fluid collection. A detailed history noted that she recently adopted a stray kitten, prompting Bartonella serological testing. Given the atypical presentation, a broad infectious evaluation was also pursued, including testing for mycobacterial, fungal and other bacterial pathogens. When B. henselae IgG titre returned strongly positive and transoesophageal echocardiogram (TEE) showed a tricuspid valve vegetation, the diagnosis of culture-negative endocarditis was established. Treatment with doxycycline and rifampin led to rapid symptom resolution.This case highlights the potential for CSD to present as right-sided endocarditis. Clinicians should consider B. henselae infection in patients with FUO and cat exposure, even without classic regional lymphadenopathy. Due to its fastidious nature, B. henselae often evades culture, underscoring the role of serological or molecular testing in diagnosis. This report emphasises the diagnostic challenges of culture-negative endocarditis and the critical importance of detailed exposure history in guiding targeted diagnostic testing and stepwise serological evaluation in atypical disease patterns.

Primary ovarian lymphoma is a rare malignancy, representing <1% of ovarian neoplasms and a small subset of extranodal lymphomas, with diffuse large B-cell lymphoma (DLBCL) being the most frequent subtype. Diagnosis is often delayed because symptoms overlap with more common gynaecological or infectious conditions.We report a woman in her 20s presenting with hoarseness, exertional dyspnoea and low-grade fever. Imaging showed mediastinal lymphadenopathy, and repeated biopsies revealed necrotising granulomatous inflammation without malignancy. Persistent symptoms prompted fluorodeoxyglucose (FDG) positron emission tomography (PET)-CT, which detected a hypermetabolic right adnexal mass; MRI suggested a high-grade neoplasm, and tumour markers were normal. Laparoscopic biopsy confirmed high-grade DLBCL (stage IV, germinal-centre B-cell subtype) with a high Ki-67 index.We report a woman in her 20s presenting with hoarseness, exertional dyspnoea and low-grade fever. Imaging showed mediastinal lymphadenopathy, and repeated biopsies revealed necrotising granulomatous inflammation without malignancy. Persistent symptoms prompted FDG PET-CT, which detected a hypermetabolic right adnexal mass; MRI suggested a high-grade neoplasm, and tumour markers were normal. Laparoscopic biopsy confirmed high-grade DLBCL (stage IV, germinal-centre B-cell subtype) with a high Ki-67 index.

A nulliparous woman in her 40s presented with abdominal pain and dyspnoea during the second trimester of pregnancy. Ultrasonography revealed two large abdominal masses: the upper lesion occupied the entire left subphrenic space extending to the uterine fundus, whereas the lower lesion filled the pouch of Douglas. The patient underwent laparotomy, with the caudal mass left in situ within the pelvis. She subsequently had a regular obstetric follow-up and an elective caesarean delivery, resulting in an excellent maternal and neonatal outcome.In cases of large symptomatic masses during pregnancy, comprehensive evaluation using bimanual examination and safe imaging modalities, such as ultrasound and non-contrast MRI, is essential. Surgical management should be considered only in the presence of oncological suspicion or clinical complications, always aiming to preserve pregnancy and avoid overtreatment. The mode of delivery should depend on the size, number and anatomical location of uterine masses.

Pulmonary artery pseudoaneurysm (PAP) is a rare but potentially fatal entity caused by a variety of underlying conditions. They may be congenital in origin or occur due to infective complications or occasionally secondary to pulmonary arterial hypertension. Among infective processes, tuberculosis and bacterial infections are the most common causative agents. There are few isolated reports of angio-invasive mucormycosis causing PAP; many of them were detected postmortem. Diagnosis of specific aetiology is often overlooked due to lack of clinical suspicion, as a result of incomplete investigations or due to inappropriate imaging. This report presents a case of pulmonary mucormycosis complicated by PAP in a patient with clinically unsuspected, uncontrolled diabetes. We highlight how the combination of heightened clinical suspicion, appropriate imaging and timely intervention helped us to treat a potentially fatal complication in our patient.

Non-tuberculous mycobacteria (NTM)/atypical mycobacteria are opportunistic pathogens ubiquitous in the environment. Recently, NTM cases causing skin and soft tissue infections are on the rise, owing to the improved diagnostic techniques as well as heightened number of procedures. A man in the mid 60s with diabetes, on insulin for the past 20 years, presented with multiple painful swellings, a few of them with pus discharge, over the insulin injection sites of arms, abdomen and thighs for the past 10 months. Local ultrasonography revealed anechoic collections surrounding increased vascularity in the subcutaneous planes. Histopathology showed suppurative inflammation with a large area of necrosis in the lower dermis and subcutaneous fat. Acid-fast bacilli culture grew NTM and was identified as Mycobacterium lentiflavum by PCR followed by Sanger sequencing of the 16S-23S intergenic spacer region. The lesions dramatically improved with clarithromycin and ofloxacin, which were continued for a total of 5 months.

Renal cell carcinoma (RCC) with inferior vena cava (IVC) tumour thrombus represents a high-risk surgical and anaesthetic scenario requiring meticulous multidisciplinary coordination. We report the peri-operative management of a patient in his late 60s with right-sided clear-cell RCC extending to level III of the IVC, who underwent open radical nephrectomy with tumour thrombectomy under continuous transoesophageal echocardiographic monitoring. The procedure was complicated by a total blood loss of 6.4 L and a 26-min period of supra-hepatic IVC clamping. Haemodynamic stability was maintained through early activation of a predefined massive transfusion protocol, vasopressor support and real-time transoesophageal echocardiography-guided assessment of cardiac filling and thrombus position. A regional anaesthesia-based, opioid-sparing analgesic strategy facilitated on-table extubation despite major fluid shifts and prolonged vascular clamping. The patient had an uncomplicated postoperative course and was discharged on postoperative day five. This case demonstrates that, within an established peri-operative framework, emphasis on anticipatory planning, structured blood-management strategies and continuous intraoperative imaging can support predictable recovery even in complex caval thrombectomy surgery.

Vanek's tumour, also called an inflammatory fibroid polyp (IFP), is a rare, non-cancerous growth from the submucosa of the gastrointestinal tract. We report the case of a woman in her mid-50s who came to the gynaecology clinic with breathlessness and anaemia. Initial imaging with an abdominal ultrasound and pelvic MRI showed a 4×4×4 cm pelvic mass, suspected to be a wandering fibroid, and surgical removal was planned. During the surgery, the mass was unexpectedly found to come from the jejunum. The general surgery team was consulted, and a 4×4×4 cm mass outside the jejunum was removed, initially thought to be a gastrointestinal stromal tumour (GIST). However, the histopathological exam showed that the lesion was an IFP, confirmed by immunohistochemistry, which tested negative for CD117. Unlike GISTs, IFPs are completely benign, have no chance of becoming cancerous and rarely come back after full removal. Extraluminal cases of IFPs are extremely rare in the literature. Recognising these unusual cases is crucial to prevent misdiagnosis, guide proper surgical management and reassure patients about their prognosis.

We present the case of a male in his mid-30s with a progressive complex neurological phenotype primarily characterised by levodopa-responsive parkinsonism with motor fluctuations as well as gait ataxia, peripheral neuropathy and finally also spastic paraplegia. Genetic analysis identified a novel heterozygous variant in the KIF5A gene: c.937G>A (p.Glu313Lys). This variant is genetically classified as likely pathogenic. Other pathogenic mutations in the KIF5A gene are associated with hereditary spastic paraplegia type 10, Charcot-Marie-Tooth disease type 2 and amyotrophic lateral sclerosis. We discuss the clinical, genetic and prognostic implications of this finding.