Clinical medicine (London, England)
-
We present the case of a 73-year-old male with pyrexia of unknown origin (PUO). He was a returned traveller from Southern Africa and underwent extensive investigation to rule out an infective cause. ⋯ Subsequent CT-PET showed high mural uptake in the thoracic and abdominal aorta and its major branches, confirming the diagnosis of Large Vessel Vasculitis (LVV). This case highlights the importance of considering LVV in patients with PUO and with transaminitis.
-
Case Reports
A Novel Mutation in the ABCC8 Gene Causing Maturity-onset Diabetes of the Young: a Case Report.
A 34-year-old woman was diagnosed with type 1 diabetes mellitus and treated with insulin for 24 years. The patient has a family history of diabetes in three consecutive generations. Her Whole exon sequencing showed a heterozygous mutation in the ABCC8 gene, and it also found some of her relatives to carry this mutation. She was diagnosed with MODY12 and received glimepiride therapy with the achievement of good glycaemic control.