BMJ Case Reports最新文献

Colonic volvulus, although the cause of less than 2% of large bowel obstructions, is the overall third leading cause of large bowel obstruction in the USA. Of these cases, less than 1% are described to be volvulus of the transverse colon, as volvulus most commonly affects the sigmoid colon or caecum. In the context of pregnancy, there is an even greater paucity of information regarding the management of volvulus. We report a case of a female in her 20s who presented at 33 weeks and 6 days during her first pregnancy with concern for large bowel volvulus. Initially managed endoscopically, after extensive discussion with family, obstetrics team and maternal foetal medicine team, the decision was made to pursue delivery and surgical intervention concurrently.

A boy in early childhood with genetically confirmed familial hypercholesterolaemia was found to have an unusually low low-density lipoprotein cholesterol level. He had undergone a distal ileal resection and right hemicolectomy for ileal atresia and microcolon in the neonatal period. This case serves as a reminder of the surgical interventions sometimes used to treat severe hypercholesterolaemia in the pre-statin era.

Bladder stones account for only 5% of urinary tract stones, and calcium tartrate tetrahydrate (CTT) stones are exceedingly rare. We present the case of a man in his early 60s with untreated diabetes, hypertension and chronic pesticide exposure, who developed a 24.1 mm × 35.6 mm bladder stone. Stone analysis revealed 100% CTT composition, a finding reported predominantly in animal models and only rarely in humans. The patient's history of excessive consumption of energy drinks and supplements containing L-carnitine L-tartrate, combined with occupational pesticide exposure and neurogenic bladder, likely contributed to stone formation. This case highlights potential environmental and metabolic risk factors for CTT stones, including dietary tartrate, supplement use and chemical exposure. Recognition of such associations is crucial, as these stones pose diagnostic and therapeutic challenges. Further investigation is needed to clarify how dietary tartrate and occupational exposures may contribute to rare bladder stone pathogenesis.

A man in his 30s presented with a progressively enlarging swelling over the lateral aspect of his right ankle for 8 months. The swelling was insidious in onset, gradually progressive and notably painless. Examination revealed a 6×4 cm lobulated mass over the lateral malleolus with preserved ankle motion. Ultrasonography showed a lobulated hypoechoic lesion with vascularity, and contrast-enhanced MRI revealed a multiloculated lesion with peripheral enhancement surrounding the peroneal tendons, suggestive of synovial chondromatosis (SC). Excisional biopsy demonstrated nodules of mature hyaline cartilage separated by fibrocollagenous septa, confirming SC. The patient recovered uneventfully after excision and remained asymptomatic at follow-up. This case highlights an unusual presentation of peroneal tendon sheath SC as a painless swelling, underscoring the importance of imaging and histopathology in diagnosis and the role of surgical excision as definitive treatment.

Triple-negative breast cancer (TNBC) is an aggressive subtype with high recurrence risk. The KEYNOTE-522 trial demonstrated improved pathological complete response (pCR) rates and survival outcomes with the addition of pembrolizumab to neoadjuvant chemotherapy. However, long-term immune-related adverse events (irAEs) remain a concern, particularly in curative settings. We report a case of a woman in her early 40s with node-positive TNBC who achieved a pCR following neoadjuvant chemoimmunotherapy. After completing adjuvant pembrolizumab, she developed acquired lipodystrophy, an under-recognised irAE, manifesting as progressive subcutaneous fat loss, dyslipidaemia, and hepatic steatosis. Histology demonstrated adipocyte necrosis with lymphohistiocytic infiltration. Corticosteroids stabilised progression but did not reverse changes. This case highlights the need for long-term surveillance of irAEs and raises important questions about immunotherapy de-escalation in patients achieving pCR, against a rapidly evolving systemic treatment landscape for TNBC.

Meckel's diverticulum is the most common congenital anomaly of the gastrointestinal tract, though it rarely presents with perforation in adulthood. Clinical presentation may often mimic more benign conditions, delaying diagnosis.We present the case of a healthy male patient in his early thirties who presented with abdominal discomfort, nausea and vomiting, following a few days of loose stools attributed to viral gastroenteritis. The patient was haemodynamically stable apart from mild tachycardia. Computed tomography (CT) imaging revealed pneumoperitoneum and free pelvic fluid, suggesting bowel perforation. Urgent diagnostic laparoscopy revealed a perforated Meckel's diverticulum, prompting segmental small bowel resection and primary anastomosis. The patient recovered uneventfully. Histopathology confirmed a perforated Meckel's diverticulum with ectopic gastric mucosa.Meckel's diverticulum should be considered in the differential diagnosis of bowel perforation, even in healthy adults presenting with nonspecific gastrointestinal symptoms. Prompt cross-sectional imaging and timely surgical intervention are crucial for optimal outcomes.

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.