Maple syrup urine disease (MSUD) is an inborn error of amino acid metabolism, which
affects the brain tissue resulting in impairment or death if untreated. Imaging studies have …

Background Cerebral microhaemorrhages are increasingly being recognised as a
complication of COVID-19. This observational retrospective study aims to further investigate …

To evaluate the usefulness of neuroimaging in children with idiopathic intracranial
hypertension, brain magnetic resonance imaging (MRI) scans of children with idiopathic …

Aim Mutations in the SLC16A2 gene have been implicated in Allan–Herndon–Dudley
syndrome (AHDS), an X‐linked learning disability* syndrome associated with thyroid …

Sickle cell disease is the most common hereditary hemoglobinopathy, which results in
abnormally shaped and rigid red blood cells. These sickle‐shaped red blood cells cause …

Vici syndrome is a rare, genetically unresolved congenital multisystem disorder comprising
agenesis of the corpus callosum, cataracts, immunodeficiency, cardiomyopathy, and …

Objective To assess the feasibility of foetal cerebral lactate detection and quantification by
proton magnetic resonance spectroscopy (1H‐MRS) in pregnancies at increased risk of …

We describe a 15-year-old boy who presented with a stroke. Brain MRI imaging showed
thalamic and multiple cerebral infarcts. An echocardiogram revealed multiple atrial masses …

A 15-year-old girl was referred to the neuromuscular clinic with a history of proximal
weakness of recent onset and a raised CPK of 1820 IU/L, prompting the suspicion of an …

OBJECTIVE To determine the accuracy of magnetic resonance imaging (MRI) renal
angiography in predicting vascular anatomy before donor nephrectomy, to determine the …