ESPE Abstracts

Background: We present four patients who presented with seizures and their journey to diagnosis. All were managed for some time as epilepsy before the diagnosis of hypocalcaemia was made.Objective and hypotheses: To confirm not all seizures are epileptiform.Method: Case reports.Results: Case 1. Seen at age 4 with seizures. EEG normal. Mild language delay. Seizures continued intermittently on anti-epilepsy med...

Background: The Freestyle Libre Flash Glucose Scanning System (FGS) is a glucose sensing technology device for people with diabetes to monitor plasma glucose levels, reducing the need for routine fingerpricks. The device is worn on the upper arm and produces graphs displaying glucose levels over a period of time. Trials of the Freestyle Libre device have been utilised at Nottingham Children’s Hospital (NCH), providing the device is used safely. Potential for most benefit ...

Background: Diabetes mellitus is a late complication in glycogen storage disease type 1 (GSD1). Patients with GSD1 who are poorly controlled have prolonged periods of low glucose levels. As they grow older they become tolerant to these hypoglycaemic episodes, and may be mildly symptomatic or asymptomatic even with low glucose levels. This results in adaptive mechanisms, mediated through down regulation of glucose receptor on the β-cell membrane (GLUT2) to reduce insulin s...

Background: Anorexia nervosa is usually associated with lower levels of thyroid hormones especially suppressed TSH and T3 with normal T4 levels due to the effects of starvation on metabolism. We present two cases where the underlying eating disorder masked the thyroid dysfunction.Patient 1: 15-year-old girl with anorexia nervosa and BMI of 15.6 was noted to have suppressed TSH<0.1 mU/l, high normal T3–7.0 pmol/l ...

Introduction: Conventional treatment of X-linked hypophosphataemic rickets (XLH) involves administration of oral phosphate and vitamin D analogues. An important treatment goal is to heal rickets which is assessed by normalisation of serum alkaline phosphatase (ALP) levels and resolution of radiological signs of rickets.Objectives: To determine the usefulness of serum ALP in assessing disease severity on wrist and knee ra...

Brown adipose tissue (BAT) is a key component of the body's defence against cold challenge and possesses the ability to convert large amounts of chemical energy to heat, conferred by a unique protein, uncoupling protein (UCP)-1, diverting mitochondrial respiration from the production of adenosine triphosphate. In humans, the largest BAT depot is in the supraclavicular region. Sympathetic nervous system stimulation induces glucose uptake into brown adipose tissue, as does i...

Background: Pubertal induction with incremental doses of oestrogen replacement is an important component of care offered to hypogonadal patients with Turner Syndrome (TS). Low dose oral ethinylestradiol (EE) has been extensively used in the UK but natural 17-β oestradiol (more physiological, cheaper and easily monitored in blood) is becoming increasingly popular.We undertook this audit to compare the efficacy and acceptability of...

Background: Turner syndrome (TS) is characterised by a wide phenotype and age at presentation. We reviewed our over-12s Turner clinic over a period of 10 years to evaluate pattern of diagnosis, co-morbidities and management.Subjects & Method: Retrospective data analysis of patients with TS who attended the over-12s clinic (2008-2017, n=28). Data is median (IQR) or mean±SD as appropriate.<p class...

Background: Pycnodysostosis is a rare recessive condition with mutation in the cathepsin K gene, causing reduction in bone reabsorption resulting in abnormally dense and fragile bones. Characteristic features include deformity of the skull, maxilla causing craniofacial, dental abnormalities with skeletal changes and short stature. Growth hormone therapy has been attempted in a small group of patients with Pycnodysostosis to promote final adult height, however has not been show...

Background: The hyperosmolar hyperglycaemic state (HHS) is rare, but recognised, life-threatening clinical entity in children with type 2 diabetes (T2DM). It is also reported as presenting feature in other types of diabetes and metabolic disorders. The estimated mortality in HHS is 10–20%, ten times higher than Diabetic Ketoacidosis (DKA).The mainstay of management involves aggressive fluid therapy with insulin and managing complications namely; rhabdomyolysis, multi-orga...