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 ...

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).

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 ...

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 ...

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 ...

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

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 ...

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 ...

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 ...

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.

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 ...

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