BMJ Case Reports最新文献

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.

Ovarian vein thrombophlebitis (OVT) is a rare but serious complication, most often described postpartum but also possible after abortion or pelvic surgery. It represents part of a spectrum that includes ovarian vein thrombosis, OVT and septic pelvic thrombophlebitis (SPT). Clinical features are non-specific, with pelvic pain and persistent fever often mimicking endometritis, urinary tract infection or other abdominal conditions, which contributes to delayed diagnosis. Imaging, particularly contrast-enhanced CT, is crucial for confirmation.We report the case of a woman in her 20s who developed OVT after an abortion at 16 weeks' gestation, an exceedingly uncommon setting for this condition. Diagnosis was established by clinical features, inflammatory markers and CT showing right ovarian vein thrombosis. She was successfully treated with broad-spectrum antibiotics and anticoagulation, transitioning from low-molecular-weight heparin to rivaroxaban, with complete recovery.

Spontaneous coronary artery dissection (SCAD) is a rare acute coronary artery event; however, it should always be considered in pregnant and postpartum patients as it can be life-threatening if untreated. Diagnosis of pregnancy-associated spontaneous coronary artery dissection (PSCAD) can be challenging when pathophysiological lines are blurred by changes related to pregnancy or concurrent obstetric processes such as pre-eclampsia or haemolysis elevated liver enzymes and low platelets. It has been reported that PSCAD has an increased incidence in women with pre-eclampsia, possibly due to their similar pathogenic mechanisms. We present a case of a woman who developed PSCAD on postpartum day 1 from an uncomplicated vaginal delivery. Her diagnosis was complicated by simultaneous elevation of blood pressures and worsening gestational thrombocytopaenia. The patient underwent coronary artery catheterisation, which confirmed the diagnosis of SCAD and was treated conservatively. She was eventually discharged home without any longstanding complications.  .

Migration of a haemodialysis catheter is an uncommon complication that may compromise dialysis efficacy and patient safety. This report describes a case of haemodialysis catheter tip migration into the azygos vein. A man in his 40s presented with progressive dyspnoea and reduced extracorporeal blood flow during haemodialysis. Chest radiography revealed that both limbs of the left internal jugular tunnelled haemodialysis catheter had migrated to the right brachiocephalic vein and azygos vein, respectively, causing inefficient dialysis. The catheter was successfully repositioned using the modified loop-snare technique, involving a wire loop created with a reverse-curve catheter and goose-neck snare to address the kinked limb. This case underscores the importance of recognising catheter migration and the problem-solving skills of an interventionist. The modified loop-snare technique is an effective, minimally invasive method to reposition migrated haemodialysis catheters, avoiding cuff dissection and a new subcutaneous tunnel creation.