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 ...
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 ...
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Alpha-1 antitrypsin deficiency with the rare IZ phenotype presenting as cystic lung disease

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Anaesthetic management of a preadolescent child with Mucopolysaccharidosis type II (Hunter’s syndrome) for insertion of a ventriculoperitoneal shunt (3 November, 2025) ...
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

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

Cyclops lesion post-meniscal repair

An adolescent with a knee sprain was submitted to meniscoplasty for a discoid meniscus with anterior horn detachment and posterior horn rupture, achieving a pain-free full range of motion at 5 months.
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Hypomelanosis of Ito: streaks and whorls

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BMJ Case Reports

Primary hypoparathyroidism as a seizure trigger in type 1 glutaric aciduria

A female infant presented with recurrent generalised tonic-clonic seizures, persistent upward gaze and a prolonged postictal phase. Clinical examination revealed macrocephaly and global developmental ...
BMJ Case Reports

Uncommon cause of percutaneous fistulation

We report the case of a woman in her mid-60s with a 9 month history of a lesion to the right posterolateral flank presenting as a gradually enlarging, inflamed pink papule, which developed into a ...
BMJ Case Reports

An unusual presentation of endometrial cancer—diagnostic challenges and management

This case report elucidates the atypical presentation of endometrial cancer in a postmenopausal woman, initially manifested by bladder symptoms only without postmenopausal bleeding. Imaging revealed a ...