BMJ Case Reports最新文献

A middle childhood child with infantile hemiparesis is the subject of this case study. He has left-sided weakness and delays in both gross and fine motor milestones, particularly in the upper limb. The child's delayed cry and need for NICU admission, despite a full term and vaginal delivery, suggested perinatal hypoxia. The results of the MRI showed slight right lateral ventricular asymmetry and periventricular leukomalacia, which are signs of hypoxic-ischaemic encephalopathy. Clinical assessment revealed isolated motor impairment, hypertonia and elevated deep tendon reflexes. The start of physiotherapy was delayed due to the delayed diagnosis at middle childhood and the lack of early intervention. This case demonstrates the complexity of infantile hemiparesis and the importance of neuroimaging, physiotherapy and early identification in enhancing results. Timely developmental monitoring and parental education are crucial, as early detection and organised rehabilitation can greatly improve motor function, lessen impairment and improve the child's quality of life.

A patient in late adolescence presented with sudden pleuritic chest pain at rest. Chest radiograph showed pneumomediastinum with associated subcutaneous emphysema. CT thorax with oral contrast confirmed spontaneous pneumomediastinum (SPM) and excluded oesophageal or tracheobronchial injury. SPM occurs when alveolar rupture allows air to track along perivascular sheaths into the mediastinum, known as the Macklin effect. The patient remained clinically stable during hospital observation and required only simple analgesia. A repeat chest radiograph showed no progression. The patient was discharged without complications. This case emphasises the need to consider pneumomediastinum in otherwise healthy individuals presenting with acute chest pain.

Anterior mediastinal masses pose significant anaesthetic challenges, primarily due to the risks of airway compression and haemodynamic instability. We present the case of an adolescent with an anterior mediastinal mass causing severe tracheal and vascular compression, necessitating urgent diagnostic biopsies. Given the high risk associated with general anaesthesia, the procedure was performed under local anaesthesia in conjunction with clinical hypnosis. This approach was well tolerated, successfully avoiding deep sedation and airway manipulation.As the initial biopsies were inconclusive, an excisional lymph node biopsy was subsequently performed using the same anaesthetic strategy, incorporating both the hypnosis protocol and local anaesthesia. This procedure confirmed the diagnosis of Hodgkin lymphoma, enabling the prompt initiation of chemotherapy.This case underscores the potential role of clinical hypnosis as an adjunct to local anaesthesia in enhancing patient comfort and cooperation, particularly when general anaesthesia presents substantial risks.

A woman in her 50s presented with progressively worsening low back pain, urinary incontinence and lower limb numbness. Her symptoms had gradually intensified over 1 month, severely affecting her mobility and daily activities. Neurological examination revealed significant motor weakness in the lower limbs, sensory deficits below the S1 dermatome, and bladder incontinence, raising concerns about a possible space-occupying lesion compressing the sacral nerve roots. MRI of the lumbosacral spine showed a large sacral lesion extending from S1 to S4, which was confirmed by biopsy to be a sacral chordoma. Given the size and location of the tumour, a multidisciplinary team planned a two-stage surgical approach involving both anterior and posterior resection. The anterior approach focused on isolating and mobilising the tumour from surrounding structures, while the posterior approach was used for en bloc resection and lumbopelvic reconstruction. Postoperatively, the patient achieved independent ambulation but required long-term urinary catheterisation and colostomy care. This case highlights the complex nature of sacral chordomas, the necessity for a combined surgical approach and the importance of postoperative rehabilitation in optimising patient outcomes.

Maturity-onset diabetes of the young (MODY) is an autosomal dominant monogenic form of diabetes. This report describes a case with hepatocyte nuclear factor 1-alpha (HNF1A)-MODY due to a novel heterozygous HNF1A mutation. The patient presented with hyperglycaemia and glycosuria in the absence of diabetic ketoacidosis. Family history was notable for early-onset diabetes. Genetic testing confirmed a previously unreported pathogenic HNF1A variant. Treatment with a GLP-1 receptor agonist and metformin reduced glycated haemoglobin from 10.2% to 6.0% within 3 months. This case highlights the importance of genetic screening in early-onset diabetes, which is frequently misdiagnosed as type 1 or type 2 diabetes, and expands the spectrum of HNF1A mutations relevant to precision medicine.

A female patient in mid-30s with a medical history of pulmonary arterial hypertension (PAH) and autoimmune hepatitis underwent an orthotopic liver transplant, after which she had exacerbated PAH and developed right ventricular (RV) dysfunction and shock, leading to veno-arterial (VA) extracorporeal membrane oxygenation (ECMO) initiation. Despite fluid removal, pulmonary vasodilators, positive inotropic support and VA ECMO, her condition slowly worsened, and she could not be weaned from VA ECMO. Concurrent veno-pulmonary (VP) ECMO support was initiated, leading to optimisation of haemodynamics, decannulation from VA ECMO after 2 days, successful RV recovery and decannulation from VP ECMO support after 6 days. This case highlights the use of VP ECMO as a therapeutic option for PAH and refractory right ventricular failure despite maximum medical therapy and VA ECMO.

Methotrexate (MTX) is widely used in oncology but carries a risk of severe nephrotoxicity, especially at high doses. We report a case of a man in his 70s with diffuse large B-cell lymphoma who developed acute kidney injury (AKI) and refractory hypotension 48 hours after receiving high-dose methotrexate (HD-MTX). Despite standard interventions including leucovorin rescue and urine alkalinisation, MTX clearance was impaired due to AKI. In the absence of glucarpidase, the patient was successfully managed with intermittent high-flux haemodialysis followed by continuous renal replacement therapy. This approach facilitated gradual MTX clearance, resolution of hypotension and recovery of renal function. This case highlights the critical need for early recognition of MTX toxicity and the potential role of individualised extracorporeal therapies when glucarpidase is unavailable.

Non-gestational choriocarcinomas (NGCCs) are extremely rare and aggressive tumours that can develop without pregnancy. We present three cases in postmenopausal women in their early 60s and 70s who presented with abdominal symptoms. Evaluation included imaging, histopathology, immunohistochemistry and elevated serum β-hCG. One patient showed a partial response to chemotherapy, while two had disease progression and died. The case series illustrates the need for consideration of NGCC in older women with elevated β-hCG and no recent pregnancy, and the crucial role of early immunohistochemical diagnosis.

A man in his 60s presented to a Tertiary Referral Teaching Hospital with sudden, spontaneous onset of left eye pain. Slit lamp examination with fluorescein demonstrated multiple vertical linear staining corneal abrasions. The patient was initially suspected of having an upper lid tarsoconjunctival foreign body (FB). Eventually, the expected FB was located not on the tarsoconjunctiva, but on the lower lid margin. It was suspected of being an insect stinger as there was no corroborating history of ocular trauma by metal, such as due to grinding or drilling. The FB was removed via slit lamp examination, and was submitted to electron microscopy and mass spectroscopy.