Focal dermal hypoplasia (Goltz syndrome), is an exceedingly rare X-linked dominant genetic disorder. It is a multisystem disease, but it is hallmarked by characteristic skin changes. Focal dermal hypoplasia typically occurs in females (90%), and males are thought to only survive through having either a sporadic new mutation or somatic mosaicism.
View Article and Find Full Text PDFBilateral middle cerebral artery occlusion is a very rare and dangerous pathology, accounting for less than 1% of stroke presentations. Unless treated, the natural course of the disease leads to coma or death and thus is extremely important to be detected early and managed appropriately. We present the case of a 69-year-old lady who woke with right-sided weakness and was found to have a left middle cerebral artery stroke on arrival to her local hospital, which progressed to bilateral paresis and dysarthria whilst on transfer to a tertiary hospital for definitive management.
View Article and Find Full Text PDFFailure to thrive, iron deficiency anaemia and abdominal pain are common paediatric presentations to general practitioners, outpatient clinics and are often referred to emergency departments. When young female patients suffering from psychiatric disorders, such as trichotillomania and trichophagia present to medical practitioners, the rare diagnosis of a trichobezoar, which is an accumulation of indigestible human hair in the gastrointestinal tract (90 % occurring in the stomach) needs to be suspected. Imaging is the mainstay of trichobezoar diagnosis and requires accurate interpretation to prevent complications.
View Article and Find Full Text PDFIntussusception, a process whereby a segment of the intestine telescopes into the adjoining intestinal lumen, is a rare source of pain in adults that present with nonspecific abdominal pain. Imaging is the mainstay for diagnosis, which requires prompt and accurate interpretation to prevent complications. The following report details the misdiagnosis of intussusception in a 54-year-old male, whom presented to the emergency department with a 4-day history of nonrelenting abdominal pain, nausea, vomiting, and constipation.
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