BMJ Case Reports最新文献

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.

A small proportion of small cell lung cancer (SCLC) presents as paraneoplastic limbic encephalitis (PLE). The most implicated antibody is anti-Hu, but others such as anti-ampiphysin, anti-CRMP5 and anti-SOX1 have been frequently detected. Autoimmune encephalitis mediated by antibodies against α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR) is a rare but important neurological complication of SCLC. The incidence of SCLC presenting with anti-AMPAR antibody PLE is extremely low. Our case illustrates a rare presentation of SCLC with an intention to highlight the importance of evaluating for malignancy and associated paraneoplastic syndromes in patients with unexplained encephalopathy.

A male infant, born to parents in a non-consanguineous marriage presented with a 1-month history of itchy, fluid-filled lesions in a string-of-pearl appearance all over the body following administration of the first dose of pentavalent vaccination. The results of the immunological tests confirmed the diagnosis of bullous pemphigoid. He was treated with topical and oral corticosteroids along with oral dapsone, followed by good improvement. The child received subsequent doses of the vaccine without any further relapses.

Prolonged neonatal jaundice is usually benign but can occasionally indicate serious hepatobiliary disease. Current UK guidelines emphasise bilirubin-based screening, which may overlook atypical biochemical profiles. A term neonate presented with persistent jaundice but was otherwise well, with normal stools and urine. Bilirubin levels were normal, yet gamma-glutamyl transferase (GGT) was markedly elevated at 1101 U/L. Further testing revealed reduced alpha-1 antitrypsin (A1AT) levels and PiMZ heterozygosity. Imaging showed no structural abnormality. Over follow-up, transaminases-alanine aminotransferase and aspartate aminotransferase-rose, suggesting evolving hepatic involvement. Isolated GGT elevation, though uncommon, may represent the earliest clue to hepatobiliary disease. Heterozygous A1AT deficiency is not always benign and warrants ongoing biochemical surveillance. Clinicians should interpret guideline frameworks carefully to ensure atypical but clinically significant disease presentations are not overlooked.

Gastric duplication cyst (GDC) is a rare sub-type of enteric duplication cysts. Complete surgical excision is recommended due to potential risks of bleeding, perforation and malignant transformation. Our patient presented with an antenatally detected cystic structure posterior to the stomach. She was asymptomatic and kept on regular ultrasound surveillance, eventually undergoing open excision in early childhood. Histopathology confirmed a GDC with atypical finding of respiratory epithelium.

An infant with equino-varus deformity of her right foot and flexion deformity of the knee presented to our centre. Based on clinical and radiological examination findings, she was diagnosed with Paley Va (Jones Ia) axial longitudinal intercalary deficiency of the right leg as the entire tibia was absent. Consequent to cultural non-acceptance of amputation by the parents, her management involved staged procedures. The initial surgery aimed to achieve fusion between the talus and the distal end of the fibula after soft tissue release and fibular shortening. In the subsequent surgery, Weber patelloplasty comprising rotation of the patella distally by 90° and its fusion with the proximal fibula was performed. Complications included femoral osteomyelitis, skin necrosis and non-union at the site of the fibula and talus fusion, which were managed appropriately.Three years after the index procedure, the child has been walking with a stable, plantigrade foot, aided by a knee-foot-ankle orthosis and has a mobile knee joint with active movements. Although the reconstructed limb cannot be equated to a normal limb, the short-term outcomes show that reconstruction can be offered if parents do not consent for amputation and are willing to accept the prolonged duration of treatment.

Pheochromocytoma is a rare catecholamine-secreting tumour that can cause transient cardiomyopathy resembling Takotsubo syndrome due to catecholamine excess. Its diagnosis is often challenging because of the tumour's rarity and the non-specific, often paroxysmal nature of symptoms. We present the case of a previously healthy woman in her 30s who developed non-specific symptoms, including nausea, vomiting and palpitations, progressing to cardiogenic shock with severely impaired biventricular function requiring mechanical circulatory support. Further investigations revealed a pheochromocytoma-induced Takotsubo syndrome, which was successfully treated with adrenalectomy. This case report supports current evidence that early recognition and aggressive supportive care, including mechanical circulatory support as a bridge to surgery, can lead to full recovery from severe catecholamine-induced cardiac dysfunction.