Hydroxyl-methyl-glutaryl-Co-A reductase (HMGCR) immune mediated necrotising myopathy (IMNM) is a rare autoimmune myositis that is thought to be triggered by statins and responds to immunomodulation.

Portopulmonary hypertension (PoPH) is a poorly understood complication of liver disease which affects about 10% of patients with pulmonary hypertension. This case report outlines the difficulties in ...

Hereditary angioedema (HAE) is a genetic disorder that causes sudden episodes of swelling, often accompanied by abdominal pain. Affecting roughly 1 in 50 000 people, HAE typically appears in childhood ...

We describe a case of a 49-year-old man who presented with recurrent strokes in the left middle cerebral artery territory, manifesting with dysphasia, higher cognitive deficits, motor deficits and ...

Relapsing polychondritis is a rare autoimmune-driven cause of cartilaginous inflammation with multi-systemic impact and disease. We present an acute presentation of optic neuropathy on an eight-month ...

A woman in her 40s with a history of a subarachnoid haemorrhage complicated by ischaemic infarcts presented with 1 week of ...

Neurofibromatosis Type 1 (NF1) is a genetic disorder characterised by benign tumours and cutaneous lesions, including neurofibromas. This case report describes a boy in his early 10s with NF1 who ...

Craniorachischisis totalis (anencephaly with total open spina bifida) is the most severe form of neural tube defects. The exact aetiology of neural tube defects remains poorly understood. We report a ...

Background Hypokalemic periodic paralysis (HPP) is a rare autosomal-dominant genetic disorder occurring in 1 in 100 000 patients. 1 Attacks of myopathy are usually precipitated by stress, such as ...

Perianal Paget’s disease (PPD) is a rare condition which is often associated with underlying malignancy. To definitively rule ...

Patients with inoperable hepatobiliary cancers often endure severe abdominal pain, which impacts their quality of life. This pain is usually a combination of both nociceptive and neuropathic pain, ...

Giant fornix syndrome (GFS) results in chronic, relapsing conjunctivitis in elderly patients with enophthalmos and enlarged fornices, in which infectious material collects and perpetuates inflammation ...