ESPE Abstracts

Background: The familial non-autoimmune hyperthyroidism (FNAH) is a hereditary disease caused by dominant activating mutations of the TSH receptor (TSHR) gene and rare in the paediatric population.Case presentation: A 20-month girl was referred for tachycardia. In personal history, she was delivered at 35 weeks of gestation by caesarean for fœtal tachycardia; she had been hospitalised at 1 and 5 months for diarrhoea and tachycardia was noticed. Clin...

Background: Non functioning pituitary macro adenoma is rare during childhood. Therapeutic options are reduced to surgery and radiotherapy. Proton therapy is a particle therapy that uses a beam of protons to irradiate the tissue with the chief advantage that as a charged particle the dose is deposited over a narrow range and there is minimal exit dose.Objective and hypotheses: Proton therapy is largely used in France for paediatric craniopharyngiomas irra...

Background: Acquired Von Willebrand's syndrome (aVWS) associated with hypothyroidism is rare in children and more often diagnosed during the peripubertal period in the context of Hashimoto's thyroiditis.Case presentation: A 5-year-old girl was referred to the paediatric haematology unit for rectal bleeding, anaemia, and prolonged activated partial thromboplastin time. Her developmental and learning skills were no...