ESPE Abstracts

Background: Hypothalamic hamartomas (HH) are rare non-progressive brain tumor malformations that occur early during brain development. Most of the cases are sporadic and nonsyndromic. Variation in size and location of the hamartoma within the hypothalamic region is not always associated with the severity of the clinical presentation. A wide range of symptoms could occur - from nonsymptomatic to severely affected cases that include seizures (mostly gelastic), behavioral difficu...

Background: Obesity is a complex disease that have an impact of many organs and systems. Syndromic obesity, although rare separately, encompasses around 70 entities with different phenotypic expression, gene involvement and associated anomalies. There are many genes that can influence obesity, either monogenic or polygenic in basis. Children with syndromic obesity need additional testing in order to indentify a specific disorder. Metabolic set up and endocrinological disturban...