Alpha-methylacyl-CoA racemase (AMACR) deficiency is a rare peroxisomal disorder causing pristanic acid accumulation. Only 16 cases have been described so far. A female in her seventh decade presented ...
A female in her 50s developed a headache, collapsed and was noted to have an acute atraumatic subdural haemorrhage (SDH) requiring surgical evacuation and intracranial pressure-directed therapy. Her ...
Infectious diseases have long been considered one of the triggers for autoimmune and autoinflammatory diseases. Since the appearance of the new coronavirus in December 2019 in the city of Wuhan, China ...
Uterine scar dehiscence with underlying placenta is often misdiagnosed as placenta accreta spectrum both prenatally and intraoperatively due to the absence of myometrial tissue in the area.
Vaccine-induced immune thrombotic thrombocytopenia (VITT) rarely develops after many COVID-19 vaccines. A 51-year-old woman re-presented to hospital with a 4 day history of headache, vomiting, ...
Toxic leukoencephalopathy (TL) is characterised by an insult to the myelin of the cerebral white manner which can be attributed to a number of offending agents, including drugs of abuse. We report a ...
Bruck syndrome is a rare, autosomal-recessive condition associated with features of both arthrogryposis and osteogenesis imperfecta. It is characterised by congenital large joint contractures with ...
Bing-Neel syndrome (BNS) is a very rare manifestation of Waldenström macroglobulinaemia (WM), in which lymphoplasmacytic cells invade the central nervous system. The clinical presentation includes ...
Fahr’s disease is a rare condition characterised by the presence of idiopathic familial bilateral basal ganglia calcifications, transmitted in an autosomal-dominant fashion. Diagnosis is based on ...
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2 Department of Surgery, South Infirmary Victoria University Hospital, Cork, Ireland 3 Department of Radiology, South Infirmary Victoria University Hospital, Cork, Ireland 4 Department of General ...