ESPE Abstracts

Introduction: Non-diabetic ketoacidosis occurring with hyperglycaemia causes diagnostic dilemma in the emergency department. Biochemistry mimics diabetic ketoacidosis [DKA], the proposed mechanism is ketosis from reduced carbohydrate intake, with stress hyperglycaemia from acute illness.Case Description: A 1 year old boy presented to the emergency department with a short history of fever and reduced oral intake. Initial ...

Introduction: PKDCC gene mutation was first described in 2017, with ten patients described in the literature to date. It is associated with rhizomelic skeletal dysplasia, short stature, characteristic facial features of flat high forehead, hypertelorism, micrognathia and in some cases hearing loss. The clinical phenotype is expanding as confirmed cases emerge.Case Description: We present two brothers born to non-consangu...

Introduction: Sitosterolaemia, is a rare autosomal recessively inherited condition. The incidence in the literature varies hugely between 1/200,000 and 1 in one million. Its incidence is likely underestimated as it is commonly misdiagnosed as familial hypercholesterolaemia. Sitosterolaemia tends to present earlier, with xanthomas, joint pains and very high total cholesterol and LDL. Routine lipid testing does not include specific testing for plant sterols. Onc...