Uncommon mutation in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS).

A 26-year-old man presented to the emergency department with new-onset generalised tonic-clonic seizures. His clinical picture suggested either autoimmune or infectious encephalitis while his brain imaging raised the possibility of a stroke. A detailed developmental and childhood medical history added suspicion of a mitochondrial defect to the differential. After several molecular genetic analyses, an uncommon mitochondrial mutation was confirmed, unequivocally consistent with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome.

Is it safe to acutely discontinue insulin therapy in patients with chronic hyperglycaemia starting GLP-1R agonists?

We report two patients with chronic hyperglycaemia secondary to type 2 diabetes who developed severe vomiting on d. The first patient was diagnosed with a mixed picture of diabetic ketoacidosis (DKA) and hyperosmolar hyperglycaemic state (HHS) and the second, with DKA. They were on insulin therapy which was discontinued on commencing d because of inefficacy and weight gain. The HHS patient developed dehydration secondary to vomiting and had lactic acidosis but no other precipitant could be found in either case. It appears that the abrupt insulin discontinuation coupled with vomiting and dehydration led to the metabolic derangements. Subsequent C-peptide levels were found to be low in both patients. In view of the predisposition of patients with chronic hyperglycaemia to glucagon-like peptide 1 receptor (GLP-1R) downregulation and the lag time to optimal efficacy of GLP-1R agonists, we propose that patients should have C-peptide levels measured to determine the risk of ketosis and whether insulin should be continued with dose adjustments when starting a GLP-1R agonist.

Atypical presentation of anti-GBM nephritis in a 90-year-old patient.

A 90-year-old woman who had bloody diarrhoea, nausea, weakness and reduced urine output was found to have acute kidney injury. Her inflammatory markers were raised and her chest X-ray suggested an inflammatory process. She was initially suspected to have acute kidney injury secondary to dehydration and sepsis but when her autoimmune screen returned positive for antiglomerular basement membrane antibodies our diagnosis and management strategy was reconsidered. This is a case report of Goodpasture disease presenting in an elderly patient.

Aspirin unmasking acquired haemophilia A in a patient with prostate cancer.

A 72-year-old man, on treatment for prostate cancer, attended the emergency department with his 2nd episode of spontaneous extensive bruising and haematomas. His first presentation was 2 months prior but this was thought to be because of his aspirin and he improved when aspirin was discontinued. On this occasion aspirin had been restarted 7 days before he developed his symptoms. His blood investigation was significant for a much raised activated partial thromboplastin time (aPTT). On his 3rd day of admission he deteriorated clinically with a drastic drop in his haemoglobin and worsening tense haematomas. Blood investigations confirmed the diagnosis of acquired factor VIII deficiency and he subsequently received treatment with factor VIII inhibitor bypassing activity, steroids and immunosuppresants.