ESPE Abstracts

Background: Diabetic keto acidosis is a complex metabolic state of hyperglycaemia, ketosis, and acidosis. Integrated care pathway for the management of DKA was introduced in 2007. At our hospital we use potassium infusion prepared by pharmacy that allows us to alter the rate of infusion for variable potassium delivery.Objective and hypotheses: To check the adherence to integrated care pathway. To identify whether alteration of the rate of potassium infus...

Introduction: GATA6 is a gene that encodes a zinc transcription factor with a key role in the development of several organ systems, as evidenced by the many congenital malformations that have been associated with its mutation. GATA6 plays a role in gut, lung, pituitary, and heart development, with broad expression in developing heart tissue and close link with pancreatic agenesis/hypoplasia. Most cases present with neonatal Diabetes, but a small proportion dev...

Introduction: Brain-lung-thyroid syndrome (BLTS) is a rare autosomal dominant or de novo condition that occurs in early childhood, associated with mutations of the NKX2-1 (Thyroid transcription factor 1) gene present in chromosome 14q13. This protein plays a critical role during organogenesis of basal ganglia, lungs, including surfactant production and homeostasis, and thyroid. The clinical spectrum varies from the complete triad of brain-lung-thyroid...

A girl, who was born to non-consanguineous Afghan parents, was detected with high TSH on newborn blood spot screening. Her venous blood results had elevated TSH level (31.31mU/L), normal free T4 level (10.2pmol/L) and normal thyroglobulin. Isotope scan showed normal uptake and anatomically normal position of thyroid. L-thyroxin treatment was commenced soon. Since early life she had recurrent respiratory distress and recurrent chest infections needing prolonged oxygen therapy. ...

Background: Hypernatraemia in a neonate can be common, and is usually due to high rates of insensible water loss and high urine output and subsequent dehydration. This is commonly resolved with supplementation of feeds.Case presentation: We present a preterm baby born at 35 weeks gestation who was born in good condition, did not require ventilation or intensive care support. The only support required was for feeding and thermoregulation. In the second we...

Background: In a paediatric setting polydipsia can be a commonly reported symptom which is usually innocent and habitual in nature. Diabetes Insipidus is a rare cause of pathological polydipsia. A high index of suspicion must be used in patients who exhibit other symptoms alongside polydipsia and investigations considered.Case presentation: We present three patients who have presented to a district general hospital within a short period of time with subs...

Background: Variety of defective thyroid hormone biosynthesis accounts for 15% of congenital hypothyroidism. Children with IYD gene (formerly DEHALI) mutation, which encodes thyroidal enzyme iodotyrosine deiodinase, cannot recycle iodine in thyroid gland. This results in urinary loss of iodine and hypothyroidism. The condition may be missed by neonatal screening programs.Case description: A male baby was born of non-cons...

Background: Hyperinsulinism represents a group of clinically, genetically and morphologically heterogeneous disorders characterised by β-cell dysfunction in glucose homeostasis leading to excessive insulin secretion with profound and recurrent hypoglycaemia. In most countries it occurs in approximately 1/25,000 to 1/50,000 births. Mutations in at least 14 genes have been reported to cause congenital hyperinsulinism. In nearly half of the cases, cause rema...

Background: Poland syndrome (PS) is characterized by unilateral absence or hypoplasia of the pectoralis muscle, most frequently involving the sternocostal portion of the pectoralis major muscle, and a variable degree of ipsilateral hand and digit anomalies, including symbrachydactyly. Congenital Hyperinsulinism (CHI) is the result of unregulated insulin secretion from the pancreatic β-cells leading to severe hypoglycaemia. We report a baby with Poland’s syndrome and ...

Case study: Baby A, a boy was delivered at 33 weeks gestation (birth weight 1.545 kg, 9th centile) by emergency caesarean section following maternal preeclampsia. He did not require any resuscitation at birth. He is the second baby of non-consanguineous Asian parents with no family history to note. Both parents are healthy and there was no history of maternal medication use. Baby A experienced respiratory distress syndrome and suspected sepsis. He developed a heart murmur, con...