BMJ Case Reports最新文献

A woman in her 30s presented with a 3-day history of nausea, vomiting and abdominal pain. She was found to be in ketoacidosis with an elevated serum glucose level of 18.2 mmol/L (328 mg/dL). Based on her initial presentation and test results, she was believed to have new onset diabetic ketoacidosis (DKA) from previously undiagnosed diabetes. Subsequently, she was found to have acidosis caused by acute or chronic alcohol consumption, even though her serum glucose was higher than would be typically expected with alcohol abuse. Alcoholic ketoacidosis usually has lower glucose levels as well as retained mental function when compared with DKA. A haemoglobin A1c, fructosamine level, betahydroxybutyrate to acetoacetate ratio, C-peptide and antibodies to pancreatic beta-cells can help rule out diabetes as the aetiology of the ketoacidosis. This patient was treated with fluids and electrolyte replacement, showed rapid improvement, received alcohol cessation resources and was discharged home.

Locked-in syndrome (LIS) is a severe neurological condition characterised by tetraplegia and anarthria, with preserved consciousness and vertical eye movements. It often results from bilateral pontine infarctions, which sometimes demonstrate a characteristic 'heart appearance' sign on MRI. We report a case of a mid-60s female with acute onset LIS and dyspnoea. Clinical examination suggested a pontine infarction, later confirmed by an MRI scan revealing a characteristic 'heart appearance' on axial diffusion-weighted imaging sequence. As the patient presented within the thrombolysis time window and had no contraindications, alteplase was administered. The patient demonstrated an exceptional neurological improvement within 10 days of hospitalisation, transitioning from tetraplegia and anarthria to moving all four limbs against gravity and mild dysarthria. She was subsequently discharged to a rehabilitation centre. This case underscores the efficacy of timely thrombolysis in severe pontine strokes and highlights the diagnostic significance of MRI findings in such cases.

A toddler presented with significant weight loss and lethargy. His CT scan chest revealed a sizeable anterior mediastinal mass of 14.5×12.0×7.0 cm, resulting in compression of the airway. The patient underwent a successful tumour resection but postoperatively experienced left diaphragmatic paralysis, which was effectively managed through conservative measures. Histopathology was consistent with thymoma (type B2, Masaoka stage I). This case emphasises the critical role of collaborative efforts among oncology, surgery and anaesthesiology teams in achieving positive outcomes for rare paediatric mediastinal tumours. It underscores the importance of comprehensive preoperative anaesthetic assessments, careful planning for potential complications and vigilant postoperative monitoring. Healthcare professionals, particularly anaesthesiologists, can find valuable insights in this case report for navigating the complexities associated with managing giant mediastinal masses in the paediatric population.

Aquagenic urticaria, a rare dermatological condition characterised by urticarial eruptions following water contact, poses significant diagnostic and therapeutic challenges. This condition, although uncommon, necessitates heightened clinical awareness due to its substantial impact on the patient's quality of life. We present a comprehensive account of a paediatric case involving a girl in her mid-teens, who developed recurrent wheals post-exposure to water, independent of its temperature or source. Diagnosis hinged on a detailed clinical history and a definitive water provocation test, with routine laboratory assessments yielding no contributory findings. The therapeutic regimen featuring cetirizine yielded significant symptomatic relief. Although antihistamines are the cornerstone of treatment, the differential response among individuals necessitates an individualised approach, considering adjunctive treatments such as omalizumab and ultraviolet therapy. This case reinforces the critical role of clinical acumen in the recognition and diagnosis of aquagenic urticaria and calls for further research into its pathophysiology to refine treatment strategies.

Barth syndrome (BTHS) is one of the rare X linked recessive diseases that appear in infancy with a triad of myocardial and skeletal muscle diseases, neutropenia and growth retardation. The pathogenic variant of TAFAZZIN gene leads to BTHS, which encodes the TAFAZZIN protein of the inner membrane of the mitochondria, a phosphatidyltransferase involved in cardiolipin remodelling and functional maturation. We present a case of a neonate presenting with early-onset cardiomyopathy, neutropenia and failure to thrive with no family history of cardiac diseases. Echocardiography suggested a dilated left ventricle with non-compaction and a low ejection fraction. The baby was managed with diuretics and decongestive measures. Clinical exome sequencing detected a hemizygous novel splice site variant c.541+2 T>C in TAFAZZIN, confirming the diagnosis of BTHS.

Intravascular papillary endothelial hyperplasia, or Masson's tumour, is a benign lesion of the subcutaneous tissue and skin, characterised by a reactive proliferation of endothelial cells within a vessel. Although this pathology can occur at various sites, it is generally rare. Differential diagnosis with other benign lesions or malignancies can be challenging, and since its circumscribed nature is impossible to recognise with a biopsy, excision is frequently required.We present the case of a female patient with a history of bilateral breast cancer, treated with surgery, chemotherapy and radiotherapy, who developed a slowly growing, large bulging mass in the right axilla. Biopsies were benign, and the positron emission tomography-CT showed no hypermetabolism of the mass. However, due to the debilitating bleeding from the fragile mass and uncertainty about its biological behaviour, excision was performed. Pathological examination revealed an intravascular lesion with a central thrombus, characteristic of intravascular papillary endothelial hyperplasia.

Lipomas of the talus are rare benign bone lesions. They are usually atraumatic in aetiology with a male preponderance and generally occur between the third and sixth decades of life. We report the case of a man in his 30s who had presented with pain and swelling in the posteromedial aspect of his left ankle of 6 months' duration, associated with functional restrictions, and was diagnosed as a case of intraosseous lipoma involving the talus. The patient was managed surgically by extended curettage and iliac crest bone grafting. After a period of 1 year, he was able to perform all activities and no recurrence was observed.

Neuroendocrine tumours of the extrahepatic bile ducts are extremely rare, accounting for only 0.2-2% of gastrointestinal tract neuroendocrine neoplasms. Here, we present an incidental finding of this rare tumour, identified during staging scans post-resection of a malignant rectosigmoid polyp and treated with resection and biliary reconstruction. A suspicious, arterially enhancing porta hepatis lymph node was identified on CT and further investigated with liver MRI and 68Ga DOTATATE PET. These revealed a lobulated lesion of the hilum which showed marked avidity without metastases. The patient underwent a successful radical resection of the extrahepatic biliary ducts (including the left, right and common hepatic ducts), the common bile duct and hepaticojejunostomy formation. Histology revealed a 20-mm well-differentiated NET, WHO Grade 2. Two years later, the patient is alive and well without recurrence. This fascinating case illustrates the importance of thorough preoperative planning of surgical resection for tumours at an unusual primary site.

Acute phlegmonous esophagitis (APE) is a rare disease caused by bacterial infection of the oesophagus, typically involving the submucosal and muscularis layers. Patients may present with chest pain, dysphagia, odynophagia, dyspnoea, fever, nausea and vomiting, making diagnosis difficult. We present two cases of APE, both young females who presented with dysphagia and odynophagia. The first patient had a history of surgery (left mastoidectomy) which might have functioned as a nidus for infection, whereas the second patient had uncontrolled diabetes. CT findings in both patients revealed diffuse oesophageal thickening, and oesophagogastroduodenoscopy showed erythema and ulcerations. Both patients were managed conservatively using intravenous antibiotics and supportive therapy. APE is associated with a high mortality rate and warrants early diagnosis and treatment. CT is the preferred non-invasive diagnostic modality. Treatment includes systemic antibiotics, nutritional support and timely endoscopic or surgical intervention. Invasive intervention is indicated in patients not responding to medical therapy or in those with complications.

Adult-onset Still's disease (AOSD) is a rare, systemic inflammatory disorder characterised by daily fever, arthritis, a salmon-pink rash and leucocytosis. Thrombotic thrombocytopenic purpura (TTP) is included in the class of thrombotic microangiopathies and manifests clinically as microangiopathic haemolytic anaemia (MAHA), thrombocytopenia and ischaemic tissue injury secondary to microthrombi. TTP is caused by either an autoimmune, congenital or idiopathic deficiency of ADAMTS13 and carries a high mortality rate. TTP can be seen in patients diagnosed with other rheumatologic conditions, with systemic lupus erythematosus being the most common, but is rarely seen in AOSD. Permanent complication rates from TTP in the setting of AOSD have been reported to be >50%. This case study aims to report one of the rare instances of TTP presenting in a patient with known AOSD to broaden the knowledge base regarding these rare coexisting pathologies.