ESPE Abstracts

Background: Costello syndrome (CS) is a rare autosomal dominant genetic disease, first described in 1971, part of neuro-cardio-facio-cutaneous syndrome (with RAS pathway genes mutations of MAPKinaza-RASopathies), characterized by short stature, delayed mental development, joint hiperlaxity, papillomas, congenital heart defects and increased risk to develop benign or malignant solid tumors.Case: We present the case of a teenaged girl (15 years 7 months), ...

Background: Adrenoleukodystrophy (ALD) is an X-linked disease characterized by impaired β-oxidation of very long-chain fatty acids (VLCFA) and in the most severe cases by inflammatory demyelination in the brain, adrenocortical insufficiency (AI), and death. Seven phenotypes were described, with a higher prevalence of the cerebral forms.Case report: We report two cases of ALD with different evolution, in February 2014. First case, an 11 years old boy...

Background: Children born small-for-gestational-age (SGA) have a birth weight below 2,500 g at a gestational age over 37 weeks or a birth weight or length below the 3-rd percentile for gestational age. They usually recover growth during the first 6–12 months of life, but if not so, it is unlikely the recovery to happen after the age of two unless GH replacement therapy is initiated.Objective: The aim of this study was to evaluate the 1-st year growt...