ESPE Abstracts

Objective: To perform a pilot study on the frequency of sleep-disturbance (Total sleep Disturbance Score (TSD) of > 41) in children diagnosed with Drug Resistant Epilepsy aged 4 to 12 years, using the Children’s Sleep Habits Questionnaire (CSHQ).Method: The Children’s Sleep Habits Questionnaire (CSHQ) was used to screen for sleep disturbances among 73 patients aged 4 to 12 years old, with drug-resistant ep...

Background: Growth retardation as well as metabolic and endocrine derangements are of utmost importance among the sickle cell disease (SCD) population.Objective: To determine the growth pattern in a cohort of Egyptian children with SCD and to determine the impact of endocrine complications and nutritional status on their growth pattern.Subjects and Methods: This study was a prospec...

Objective: Transition is important for continuity of care for patients with chronic health conditions. The aimof this research was to evaluate the effectiveness of a transition clinic at a tertiary hospital in long term adult service attendance.Design: Retrospective case notes review of patients seen by paediatric endocrinology at the time of transition to adult services.Measurements:</stro...

Background: Fucosidosis is one of the rare autosomal recessive lysosomal storage diseases (LSDs) attributed to FUCA1 variants causing the deficiency of α-L-fucosidase in vivo. Α-L-fucosidase deficiency will cause excessive accumulation of fucosylated glycoproteins and glycolipids, which eventually leads to dysfunction in all tissue systems and presents with multiple symptoms. Fucosidosis is a rare disease which is approximately 120 cases h...

Subclavian artery disruption sequence explains the development and association of Poland, Klippel-Feil, and Moebius anomalies with the hypothesis of vascular etiology. Herein, the coupling of Klippel-Feil-Poland-Moebius Syndromes and the diagnostic process in a patient who presented to our outpatient clinic with breast asymmetry will be discussed. At the age of 11 years and 10 months, the patient presented with breast asymmetry (smaller left breast-hypotelia). The patient&apos...

Introduction: Fanconi anemia (FA) is a hereditary genomic instability syndrome characterized by congenital abnormalities, bone marrow failure, and cancer predisposition. At the molecular level, FA is caused by pathogenic variants in the FA/BRCA DNA pathway, responsible for DNA repair. FA phenotype include heterogeneous physical abnormalities, with two main associations: VACTERL-H (vertebral abnormalities, anal atresia, <strong...

Background: Diabetes insipidus (DI) represents a rare but critical condition in neonatology, particularly affecting extremely low birth weight (ELBW) and preterm infants. It arises from deficiencies in arginine vasopressin within the hypothalamic-neurohypophyseal system or defects in vasopressin receptors at the kidney level. Recognizing DI in neonates proves challenging due to subtle symptoms. Early diagnosis and prompt management of water and electrolyte imb...

Introduction: The association of multisystem pathologic conditions and epidermal nevi, known as the epidermal nevus syndrome, includes disorders of bone, central nervous system, eye, kidney, vasculature, body symmetry, and skin. Rarely hypophosphatemic trickets has been observed in association with this syndrome. Precocious puberty is another rare finding associated with epidermal nevus syndrome, having been observed in 1 patient.<strong...

Background: Pseudohypoparathyroidism (PHP) refers to a group of rare diseases characterized by post-receptor resistance to parathyroid hormone and other protein hormones (TSH, GHRH, LH, FSH), due to defects in the Gsα protein. PHP can be associated with the phenotype known as Albright’s hereditary osteodystrophy (AHO), which includes round face, short stature, brachydactyly, ectopic ossifications and mental retardation. Diagnosis often stem out fro...

Background: Protein-losing enteropathy (PLE) is a complex life-threatening complication that occurs in 5-15% of patients who undergo Fontan procedure to palliate a functional or anatomic single ventricle. Patients with PLE suffer from enteric protein loss, hypoproteinemia, hypoalbuminemia and electrolyte alterations. Enteral budesonide is widely recognized as the corticosteroid of choice to treat gut inflammation underlying PLE for its strong local anti-inflam...

Introduction: Turner syndrome is frequently associated with autoimmune diseases. Systematic and early detection of these autoimmune diseases allows for better management. We present a clinical case report illustrating the auto-immune diseases in Turner syndrome.Case report: a 7-year-old girl was diagnosed with Turner syndrome since the age of one year. Initially, she presented a lymphoedema of the hands and feet, short s...