hrp0082p3-d2-678 | Bone (1) | ESPE2014

When is Epilepsy Not Epilepsy

Lloyd-Nash Richard , Randell Tabitha

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...

hrp0089p1-p071 | Diabetes & Insulin P1 | ESPE2018

Review and Audit of Diabetes Control in Children and Young People with Diabetes Using the FreestyleLibre Flash Glucose Scanning System (FGS)

Zahid Aisha , Sachdev Pooja , Denvir Louise , Randell Tabitha , Drew Josephine

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 ...

hrp0082p3-d2-717 | Diabetes (1) | ESPE2014

Diabetes Mellitus a Late Complication in Glycogen Storage Disease Type 1b

Kumar Kiran , Sachdev Pooja , Randell Tabitha , Denvir Louise

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...

hrp0082p3-d1-980 | Thyroid | ESPE2014

Diagnostic challenges of thyroid dysfunction in eating disorders

Santhanam Priyha , Denvir Louise , Sachdev Pooja , Randell Tabitha

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 ...

hrp0092p1-172 | Bone, Growth Plate and Mineral Metabolism (1) | ESPE2019

Is Serum Alkaline Phosphatase Useful in Assessing Rickets Severity on Radiographs in Children with X-Linked Hypophosphataemia on Conventional Therapy?

Uday Suma , Shaw Nick , Mughal Zulf , Randell Tabitha , Högler Wolfgang , Santos Rui , Padidela Raja

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...

hrp0092p1-352 | Fat, Metabolism and Obesity (2) | ESPE2019

Paediatric Patients with Type 1 Diabetes Mellitus Exhibit Reduced Brown Adipose Tissue Heat Signature Following Cold Stimulation

Law James , Morris David E. , Robinson Lindsay , Randell Tabitha , Denvir Louise , Symonds Michael E. , Budge Helen

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...

hrp0092p1-384 | Growth and Syndromes (to include Turner Syndrome) (2) | ESPE2019

Pubertal Induction Amongst Girls with Turner Syndrome: A Review of Changing Practice Over 10 Years.

Elechi Hassan Abdullahi , Law James , Benson Joanna , Denvir Louise , Randell Tabitha , Sachdev Pooja

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...

hrp0092p3-155 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Turners Syndrome - Clinical Presentation, Genetics, Investigation and Management: A 10-Year Review

Elechi Hassan Abdullahi , Law James , Alexander Jacqui , Denvir Loiuse , Randell Tabitha , Sachdev Pooja

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...

hrp0086p1-p145 | Bone &amp; Mineral Metabolism P1 | ESPE2016

To Study the Efficacy and Safety of Growth Hormone (GH) Therapy in Children with Pycnodysostosis

Mohamed Zainab , Sachdev Pooja , Zamir Imran , Benson Joanna , Denvir Louise , Mughal M Zulf , Randell Tabitha

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...

hrp0084p3-711 | Diabetes | ESPE2015

Heterogeneous Presentation of Paediatric Hyperglycaemic Hyperosmolar State – A Case Series

Mohamed Zainaba , Randell Tabitha , Sundaram Prem , Greening James , Denvir Louise , Sachdev Pooja

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...