BMJ Case Reports

FDG PET in mediastinal seminoma staging and response assessment: an illustration

A male in his early 30s presented with chest pain and difficulty in breathing and was diagnosed to have a mediastinal mass. On evaluation with hybrid FDG PET-CT imaging, the extent was limited to the ...
BMJ Case Reports

Malignant peritoneal mesothelioma mimicking ovarian cancer: a diagnostic challenge

Malignant peritoneal mesothelioma (MPM) is a rare and aggressive cancer associated with a poor prognosis. Its presentation mimics a spectrum of conditions, making diagnosis and management particularly ...
BMJ Case Reports

Brain fog and protein logs: unravelling encephalopathy in lysinuric protein intolerance with rare mutation and expanded phenotypic spectrum

Lysinuric protein intolerance (LPI) is an autosomal recessive disorder caused by variants in the SLC7A7 gene, leading to impaired transport of dibasic amino acids across intestinal and renal membranes ...
BMJ Case Reports

Treatment experience with secukinumab in two patients with ankylosing spondylitis and concomitant active tuberculosis

Patients with ankylosing spondylitis (AS) may require biological therapy, particularly tumour necrosis factor (TNF) inhibitors, which are effective but increase the risk of tuberculosis (TB).
BMJ Case Reports

Giant oral teratoma presenting unique airway challenges in a neonate

Congenital teratomas of the oropharyngeal cavity are rare and are associated with a high neonatal mortality rate due to severe airway obstruction. The management of such tumours has improved ...
BMJ Case Reports

Appendiceal B-cell non-Hodgkin lymphoma presenting as recurrent appendicitis

A male patient in the late teens presented with intermittent right iliac fossa pain associated with fever and raised inflammatory markers following a previous episode of conservatively managed ...
BMJ Case Reports

Deglutition syncope: a rare cause of reflex syncope

We present a rare case of deglutition syncope in a woman in her 20s, who presented with a ten-year history of presyncope and visual disturbances triggered by eating. Investigations, including a ...
BMJ Case Reports

CT-negative central skull base osteomyelitis diagnosed on MRI in the emergency department

Central skull base osteomyelitis is a rare, life-threatening condition that can present with vague symptoms and may be missed ...
BMJ Case Reports

Reducing body myopathy due to a novel pathogenic variant in the FHL1 gene

A teenage girl born to non-related parents presented with progressive weakness in her lower limbs followed by her upper limbs over the past 5 years. Proximal muscle weakness was more significant than ...
BMJ Case Reports

Anaesthetic management of a preadolescent child with Mucopolysaccharidosis type II (Hunter’s syndrome) for insertion of a ventriculoperitoneal shunt

Mucopolysaccharidosis type II or Hunter’s syndrome is a rare, X-linked genetic lysosomal storage disorder, which results in multiorgan dysfunction and accumulation of glycosaminoglycans in various ...
BMJ Case Reports

Unusual presentation of amoebic liver abscess with pseudohaemoptysis

Amoebic liver abscesses, caused by Entamoeba histolytica , can rarely rupture into the pleural space, leading to massive pseudohaemoptysis. We report a case of a patient who presented with severe ...
BMJ Case Reports

Chromophobe renal cell carcinoma with metastatic progression and cabozantinib-induced hand–foot syndrome

Renal cell carcinoma (RCC) comprises a heterogeneous group of neoplasms with variable prognoses. Chromophobe RCC, a relatively uncommon subtype, generally follows an indolent clinical course but may ...