BMJ Case Reports最新文献

We present a case of a young man in his early 20s who presented to the hospital with acute onset of central chest pain, preceded by epigastric fullness and diarrhoea 5 days after consuming a meal containing chicken products. Following an extensive evaluation, he was diagnosed with Salmonella-associated myopericarditis. This case aims to raise awareness within the medical community about the cardiac effects of Salmonella infection. It emphasises the clinical symptoms observed and offers valuable perspectives on diagnostic methods for this uncommon but potentially fatal cause of myopericarditis. Swift identification and proper treatment are essential for positive outcomes, emphasising the significance of comprehensive care involving various medical disciplines in similar instances.

A man in his early 50s from Tanzania presented with chronic nodular skin lesions and joint pain, likely due to gout complicated by obesity, after over 15 years of misdiagnosis and ineffective treatment. Despite various therapies for leprosy, tuberculosis and steroid use, his condition worsened, leading to hyperglycaemia and significant financial strain. Missed opportunities to use simple, low-cost diagnostic tests such as ultrasound and examining nodule fluid for urate crystals led to delays in diagnosis. Instead, unnecessary tests were performed, increasing costs without aiding diagnosis. This case highlights the need to use simple, available diagnostic tests in resource-limited settings before relying on costly investigations that can impose a heavy financial burden on patients. Likewise, it emphasises recognising atypical presentations of gouty tophi, such as isolated soft tissue involvement without joint involvement.

Gastric varices (GVs) are dilated veins in the stomach submucosa, typically caused by portal hypertension. A prompt diagnosis is needed, given the significant risk of bleeding and mortality. Endoscopic cyanoacrylate injections are widely adopted for treating GV due to their efficacy in preventing rebleeding with lower complication rates. Although rare, cyanoacrylate injections can lead to pulmonary embolism (PE) via the migration of glue through portosystemic shunts or other vascular pathways into the pulmonary circulation. Diagnosing cyanoacrylate glue pulmonary emboli can be challenging due to its radiopaque nature on imaging. We present a case of a male patient in his 50s, with liver cirrhosis who developed a PE following an endoscopic cyanoacrylate injection for an isolated gastric varix. The patient presented with pleuritic chest pain and haemoptysis, and CT chest revealed evidence of glue embolisation material within both lungs. Treatment with supportive care and close monitoring improved and resolved symptoms.

Cytomegalovirus (CMV) infection is one of the most common congenital infections. We present a case of an infant who presented with respiratory distress since birth with a normal antenatal history. The infant had bilateral pleural effusion. He was malnourished with a small head. Chest auscultation revealed bilateral diffuse crepitation. The chest radiograph showed diffuse haziness with the interstitial pattern. Contrast-enhanced CT of the thorax showed diffuse areas of ground glass opacities with peribronchial thickening and patchy atelectasis in bilateral lower lobes. Detailed evaluation showed positive IgM CMV antibodies with >1000 copies/mL of CMV on urinary PCR. Hearing evaluation revealed bilateral moderate hearing loss.This case emphasises that CMV may present as pneumonitis at birth. Early diagnosis and treatment are of paramount importance in such cases, as it can prevent permanent end-organ damage.

Schwannomas, benign tumours derived from Schwann cells, exhibit slow growth rates and are commonly found extracranially in the head, neck and extremities. However, intraoral and salivary gland schwannomas are less frequent. Ancient schwannomas, characterised by histological degenerative changes, represent a rare variant.This report pertains to a case study involving a man in his 40s who presented with a slow, progressive and painless mass in the right submandibular region persisting over 3 years.CT revealed a well-defined multiloculated cystic mass in the right submandibular gland, later confirmed as an ancient schwannoma on excision and histological examination. Immediate postoperative complications included right marginal mandibular nerve palsy, fully resolving within 12 months. No recurrent tumours were detected in subsequent physical examinations and imaging.Ancient schwannomas, although rare, can occur in the submandibular gland. Thorough multimodal diagnostic approaches are essential for accurate differentiation from other submandibular masses.

Multiple chronic ulcers of the small intestine are primarily attributed to Crohn's disease. Other differential diagnoses include rare monogenic disorders caused by mutations in PLA2G4A and SLCO2A1, the latter responsible for chronic enteropathy associated with SLCO2A1 (CEAS), a condition mainly reported in Asian patients. We present the case of a 10-year-old girl from India with a 5-year history of abdominal pain, altered bowel habits and failure to gain weight. Despite multiple admissions and treatment with steroids, immunomodulators and biologics, her symptoms persisted. Exome sequencing confirmed CEAS, and radiographic imaging revealed multiple strictures in the small intestine, confirmed during laparotomy. Multiple Heineke-Mikulicz type strictureplasties were performed. This case underscores the importance of considering CEAS in patients with recurrent small intestinal ulcerations, particularly in the presence of concentric strictures, and highlights the role of genetic testing for SLCO2A1 mutations.

Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant genetic disorder. This case report aims to increase awareness of pulmonary cystic lesions and BHDS in China by providing insights into the clinical features of this syndrome. We present two cases of BHDS from the same family. We describe their clinical presentations, imaging findings, genetic mutations and the disease within their family tree. Two confirmed BHDS patients, initially presented with recurrent pneumothorax. No concurrent skin cystic changes but multiple lung cysts and FLCN gene mutation were found. Additionally, they have a family history of pneumothorax. Colorectal lesions are also noticed in their family. Remarkably, the younger sister also carried a mutation in the MSH6 gene. For patients with lung cysts or pneumothorax on chest CT, it is advisable to trace the family history and remain vigilant for colorectal lesions.

Subglottic cysts and hemangiomas are rare but potentially life-threatening conditions in pediatric patients. Subglottic cysts are generally associated with premature infants with a history of prolonged endotracheal intubation, while subglottic hemangiomas are congenital vascular lesions that grow rapidly and are uncommon head and neck tumours in pediatric patients. Both conditions can present with generalised respiratory symptoms such as stridor. Early diagnosis and treatment are crucial in avoiding airway compromise. Medical records of three pediatric patients were reviewed. All cases involved the use of coblation as treatment for subglottic cysts or hemangiomas. All three cases responded well to coblation. Subsequent endoscopies have shown excellent healing with no additional cyst or hemangioma formation with minimal stenosis. The study's results suggest coblation is a safe and effective alternative to cautery and CO₂ laser for treating pediatric subglottic cysts and hemangiomas.

A boy in his middle childhood presented with a gradually enlarging, mildly tender swelling in the left frontal region, noticed after minor trauma. Skull radiograph and non-enhanced CT revealed a diffuse sclerotic lesion involving the left frontal bone and overlying subcutaneous soft tissue, suggestive of an intraosseous haemangioma. Contrast-enhanced MRI showed an expansile, hypointense lesion in the frontal bone on the left side with enhancing extraosseous components and a small extra-axial cyst. FNAC findings were consistent with meningioma. A complete resection of the tumour was performed. Histopathology revealed WHO grade I meningo-epithelial meningioma with microscopic dural involvement. Postoperative scans showed complete tumour excision, with a persistent intracranial cyst. Follow-up MRI showed no recurrence. This case emphasises primary intraosseous meningioma as one of the possibilities in osteoblastic slow-growing bony lesions which can be easily misdiagnosed with other common causes of lumps and bumps in the paediatric population.