ESPE Abstracts

Introduction: Primary Pseudotumor cerebri (PPTC), also known as idiopathic intracranial hypertension, is clinically characterized by increased intracranial pressure in an alert and oriented patient, with no evidence of deformity or obstruction of the ventricular system on neuroimaging. Cerebrospinal fluid analysis is normal except for increased intracranial pressure at lumbar puncture, greater than the 90th percentile (28 cm of H2O) in the pediatric population. Papilledema may...

Background: Human IGF1 gene defects are characterized by intrauterine and postnatal growth retardation, sensorineural deafness, microcephaly and intellectual disability. Seven cases have been reported so far, and the underlying pathophysiology has been characterized in only three.Objective: To describe a patient with severe short stature presenting a novel homozygous IGF1 gene mutation and its underlying pathogenic mechanism.<p clas...

Background: Noonan syndrome (NS) is an autosomal dominant disorder characterized by a short stature, congenital heart defects, and characteristic facial features. Gain-of-function mutations of multiple genes in the Ras/mitogen activated protein kinase pathway have been identified in 70–80% of patients with NS. Recently, leucine-zipper-like transcription regulator 1 (LZTR1), which has not previously been associated with the pathway, was reported as a new causative...

Hutchinson-Gilford Progeria Syndrome (HGPS) is an extremely rare condition (estimated incidence 1:4–8 million), caused by mutations in LMNA gene, which leads to premature aging. Median life expectancy is shortened to 13 years due to vascular complications such as stroke or myocardial infarction. We present below the history of a child born with a pathogenic LMNA variant c.433G>A (p.Glu145Lys). A male patient was referred due to failure to thrive and low growth velocit...

Case Report: A 13-year old male presented to a dental office for evaluation of prognathism. After evaluation, his dentist referred him to pediatric endocrinology. He had no significant past medical history. He denied any signs or symptoms associated with any hormonal deficit or excess, as well as headaches or visual disturbances. Denied excessive growth of hands or feet. Parents reported that he had been having pubic and axillary hair, mild acne, and significant growth for the...

Introduction: Type 1 Arnold Chiari syndrome (extension of cerebellar tonsils into the foramen magnum without involving the brain stem) causes ataxia, dysphagia, headache, breathing problems… So far, an association between Arnold Chiari and autoimmune diseases has not yet been described in literature.Case 1 description: M.V., on term third born, spontaneous delivery, non complicated pregnancy, normal physical and psychological development stages. He...

Background: Nutritional rickets (NR) is the most common growing bone disease, and vitamin D deficiency (VDD) may predispose to other diseases (diabetes mellitus, cancer, and multiple sclerosis). Maternal VDD and exclusive breastfeeding without supplementation are the most frecuent causes of NR in the neonate. VDD is still a problem in Europe. There are few reports of maternal hypovitaminosis D and rickets in bottle-fed infants during early infancy. We report a case of Nutritio...

Introduction: Genetic syndromes often show suggestive facial features that provide clues for the diagnosis. Considering the high number of genetic syndromes and the possible overlap of some features, memorizing facial gestalt is a challenging task for clinicians. DeepGestalt technology, and its app Face2Gene, has a growing impact on the diagnosis and management of genetic diseases by analyzing the features detected in one or more facial images of affected indi...

Background: IGF1 receptor (IGF1R) mutations are associated with pre- and post-natal growth retardation. We describe two monozygotic twins, one of them born small for gestational age (SGA), referred at the age 4 years and 2 months for short stature.Case presentation: The twins were born from non-consanguineous parents at 37-weeks gestational age by caesarean delivery. At birth: patient 1 had weight 2.076 kg (−2.4 SD...

Keywords: Achondroplasia, Hypochondroplasia, Dwarfism, Fibroblast growth factor receptor-3.Introduction: Achondroplasia (ACH) and hypochondroplasia (HCH) are the two most common forms of short-limb dwarfism. They are autosomal dominant diseases characterized by a rhizomelic shortening of the limbs, genu varum, trident hands, large head with frontal bossing and hypoplasia of the mid-face. Both ACH and HCH are caused by mi...