ESPE Abstracts

Introduction: Idiopathic intracranial hypertension (IIH) is a rare neurological condition characterized by raised intracranial pressure (ICP) in the absence of hydrocephalus, brain parenchymal lesion, vascular malformation, or central nervous system (CNS) infection. Hyperthyroidism is a rare but known cause of raised ICP in children and adults, with only a few case reports in the paediatric population. We describe a 7-year-old boy with IIH associated with hype...

Introduction: Maturity Onset Diabetes of the Young (MODY) constitutes a genetically and clinically heterogeneous type of Monogenic Diabetes (MD), characterized by early onset of hyperglycemia, autosomal dominant inheritance and defect in β-cell insulin secretion. To date, 14 different MODY subtypes have been reported, each one with a distinct genetic etiology.Materials and Methods: We designed a NGS TGP of seven ...

Background: Aldosterone synthase deficiency (ASD) is caused by biallelic inactivating CYP11B2 variants. Infants mainly present with failure to thrive and salt wasting in early infancy. Moreover, different factors may cause downregulation of aldosterone synthase and secondary deficiency.Objective and Hypotheses: We present a toddler with polyuria and polydipsia and steroid hormone precursors suggestive of ASD, bu...

Objective: The aim of this study was to compare the psychometric and psychosocial profile of children and adolescents survivors of pediatric cancer to that of healthy controls.Methods: Children and adolescents survivors of pediatric cancer, aged 7–17 years, who attended the Hematology-Oncology Unit of the First Department of Pediatrics, and healthy controls who visited the Centre for Adolescent Medicine and UNESCO Chair on Adolescent Health Care of ...

Background: Attention-deficit/hyperactivity disorder (ADHD) is the most common neurodevelopmental condition in school-aged children, with a prevalence of 5–8%. In individuals with ADHD, there is an attenuated biologic stress response to challenging situations.Objective: This study aimed at evaluating the effectiveness of an 8-week stress management program, comprising self-applied cognitive exercises, on stress perception and anxiety symptoms, sleep...

Background: ACTH-independent adrenal Cushing’s syndrome accounts for less than 15% of endogenous Cushing’s syndrome in children. We present a rare case of ACTH-independent adrenal Cushing’s syndrome, which was associated with myoclonic dystonia.Case presentation: A 12-year old girl was referred on account of rapid weight gain, fatigue, growth deceleration and facial hypertrichosis. She had a history of gait instability and ataxia till the ...

Introduction: Diabetic neuropathy (DN) significantly reduces patients’ quality of life and increases cardiovascular death risk. However, it is the least recognized complication of diabetes. Z-2/Z-2 polymorphism of the aldose reductase (AKP1B1) gene increases the expression of the relative enzyme and is likely to contribute to DN expression.Purpose: To study the prevalence of DN in T1D children and adolescents and its associations with the h...

Case presentation: A 17 month old female child was transferred to our hospital from another hospital where she was admitted to the intensive care unit (ICU) due to cerebral edema, diabetic acidosis and severe dehydration. The patient had fever, polyuria, polydipsia and vomiting presented four days before admission. At her admission she was unconscious with dilated pupils, no reaction to painful stimuli (GCS 4/15) and Kussmaul breathing. Her initial blood glucose level was 391 ...

Introduction: Diabetic neuropathy (DN) is a common complication of type 1 diabetes mellitus (T1D) with significant morbidity in adulthood. The association between DN with long term poor metabolic control is well established. However, acute painful DN may present early in the course of the disease and may be reversible.Case presentation: A female adolescent, aged 12 years, with a T1D duration of 9 months, presented with acute metabolic derrangement (HbA1c...

Background: Kisspeptin (encoded by the KISS1 gene in humans), originally described as a puberty onset regulating neuropeptide, is involved in many homeostatic systems, including nutrition status, glucose homeostasis, locomotor activity, etc. Thus, in today’s obesity epidemic, kisspeptin is gaining increasing interest as a research target.Aim: To construct an updated interactome of genetic determinants of obesity, including the kisspeptin si...