P-70 Angelman syndrome associated with congenital hypothyroidism and corticotropic insufficiency

Abstract

Abstract Introduction Angelman syndrome is a rare neurogenetic disorder by mutation similar to that of Prader-Willi syndrome but of different parental origin. Its association with hypothyroidism is rarely reported in the literature Clinical Case We report the case of a 22-month-old infant, followed in neuropediatrics for genetically proven Angelman syndrome and referred to our department for congenital hypothyroidism. Explorations were in favor of an anomaly of hormone synthesis. Hormonal assessment had also revealed corticotropic insufficiency with a small hyophysis on magnetic resonance imaging. The evolution was marked by stability under hydrocortisone and levothyroxine Conclusion A single case of association of hypothyroidism and Angelman syndrome has been reported in the literature without a suggested mechanism. In the current state of our knowledge, no association of Angelman syndrome, hypothyroidism and corticotropic insufficiency has been described, making our observation the first to present these three pathologies. The simple association is plausible in our case but the possible description of similar situations in the future would support the hypothesis of a causal relationship.