BMJ Case Reports最新文献

Colonic melanoma is a rarely detected aetiology of small bowel obstruction. This is a case of a male in his 80s with a history of treated stage IIIA melanoma on his trunk 7 years prior who presented with small bowel obstruction. He underwent urgent surgical intervention, where a partial colectomy was performed. Pathology revealed a 4.6 cm melanoma causing intussusception. This case highlights the insidious nature of metastatic melanomas and discusses an uncommon location of melanoma metastasis that evaded detection until a late stage.

Hyaline fibromatosis syndrome is a rare, progressive and fatal autosomal recessive disorder characterised by multiple subcutaneous skin nodules, osteopenia, joint contractures, failure to thrive, diarrhoea and frequent infections. There is diffuse deposition of hyaline material in the skin, gastrointestinal tract, muscle and endocrine glands. The disease is often underdiagnosed since infants affected with the disease pass away early prior to establishing a final diagnosis. We describe an infant presenting with failure to thrive, progressive severe joint contractures and skin changes. Clinical exome sequencing revealed homozygous novel missense variation in exon 3 of the anthrax toxin receptor 2 gene confirming the diagnosis.

A man in his 50s with diabetes, hypertension and history of multiple percutaneous coronary interventions presented with 3 weeks of fever and worsening shortness of breath. There was clinical suspicion of infective endocarditis with raised infective parameters. Transthoracic echocardiogram showed abnormally thickened, bicuspid aortic valve with suspicion of paravalvular aortic root abscess. Transoesophageal echocardiogram identified large vegetation on aortic valve and non-homogeneous area around the aortic root towards the right ventricular outflow tract, which was further confirmed as paravalvular aortic root abscess on cardiac CT. Blood cultures revealed a rare organism 'Burkholderia cepacia'. The patient responded well to intravenous antibiotics and surgical treatment with debridement of aortic root abscess, patch repair of aortic root and aortic valve replacement with a mechanical valve.

A male in his 20s was referred to the neurosurgical service with headaches, vomiting and personality changes. He had a previous history of bilateral ventriculoperitoneal (VP) shunts and bitemporal decompressive surgery for neonatal intraventricular haemorrhage. There were appearances of slit-ventricles on his CT head scan typically associated with adequate cerebrospinal fluid drainage and normal intracranial pressure (ICP), which ordinarily will have limited further investigation. However, an X-ray shunt series demonstrated a right shunt disconnection at the neck and ICP monitoring confirmed raised ICP with poor brain compliance. He underwent revision of the right VP shunt with distal catheter replacement. Postoperatively, his symptoms, ICP and brain compliance improved.This case highlights the value of obtaining shunt series in patients presenting with symptoms of shunt obstruction regardless of a normal CT head. It emphasises awareness of slit-ventricle syndrome in adult patients with shunts, particularly those with complex childhood hydrocephalus.

We describe a case of ureteral stricture after radical cystectomy with orthotopic neobladder. The patient presented 4 months after laparoscopic radical cystectomy with intracorporeal orthotopic ileal neobladder, with fever and left lower back pain.Laboratory analysis showed leucocytosis and elevated C reactive protein and creatine levels. CT scan showed left hydronephrosis and slow excretion of the intravenous contrast medium with a narrowing at the left ureteroileal anastomosis.A nephrostomy was placed and, 6 weeks later, the anterograde placement of a drug-coated balloon with paclitaxel was placed. Inflation to rated burst pressure occurred for 3-5 min, the drug-coated balloon was removed and a new nephrostomy tube was placed without ureteral stent placement. We performed a kidney ultrasound 30 days after the drug-coated balloon placement with the nephrostomy tube closed showing no left hydronephrosis and the nephrostomy tube was removed.

A female in late adolescence with severe chest pain, dyspnoea, diaphoresis and dizziness presented to the emergency department where she was found to have exceptionally high blood pressure (250/150 mm Hg) and a diastolic murmur. Initial examinations showed left ventricular hypertrophy, and urgent CT angiography confirmed a Stanford type A aortic dissection. Following successful surgical repair, further evaluations were prompted by her persistent, drug-resistant hypertension, revealing elevated normetanephrine and 3-methoxytyramine. Subsequent imaging identified bilateral pelvic paragangliomas, which were surgically removed, significantly reducing her hypertension. Her postoperative period showed biochemical remission, and genetic testing was positive for germline SDHB mutation. Monitoring and follow-up imaging are ongoing. This case highlights the rare association of pelvic paragangliomas with acute aortic dissection in young adults, emphasising the importance of possible endocrine hypertension in young people with hypertensive emergencies.

The BOOST-2 trial indicated that optimising brain oxygen (PbtO2) could be a viable therapeutic target for severe traumatic brain injury (sTBI). Previous studies have suggested the safety of airway pressure release ventilation (APRV) in sTBI patients, but its effect on PbtO2 has not been demonstrated. This study is aimed to show that APRV can improve PbtO2 in sTBI patients. In a retrospective case series, two sTBI patients with controlled intracranial pressures developed refractory hypoxemia and brain hypoxia, unresponsive to traditional therapies. Treated with APRV, both patients showed improved hypoxemia and increased PbtO2 levels above 20 mm Hg without adverse effects on intracranial pressure. They recovered from hypoxemia, transitioned to assist-controlled ventilation and were discharged to rehabilitation. These cases suggest that APRV can safely and effectively improve PbtO2 in sTBI patients when other treatments fail, warranting further exploration pending results from the ongoing BOOST-3 trial.

Various factors limit the acceptability of methadone as an opioid agonist treatment (OAT), in which case, buprenorphine becomes the preferred alternative. The classical approach is to gradually taper methadone to a low dose and buprenorphine is initiated after some opioid-free period, which generally takes weeks. A novel approach known as 'microdosing' or the 'Bernese method' might serve as a valuable alternative. We describe two cases where the patients were successfully transitioned from methadone to buprenorphine using this method.

Klebsiella variicola is part of the K. pneumoniae complex and has been recently identified to have pathogenic properties. Emerging reports show that it can cause bloodstream, respiratory and urinary tract infections. It has been shown to be an important causative agent in immunocompromised individuals. We report here three cases of K. variicola peritonitis encountered in our peritoneal dialysis patients.