hrp0095p2-173 | Growth and Syndromes | ESPE2022

Case report of Leprechaunism syndrome in an Algerian child

Kherra Sakina , Drali Ouardia , Haddad Karima , Boutaba Mounia , Guichet Anges , Coutant Regis , Zeroual Zoulikha

Introduction: Leprechaunism syndrome is a very rare genetic autosomal recessive disorder (Prevalence 1 in a million births), and is caused by mutations in the insulin receptor gene.Case presentation: We report the case of a 5-month-old Algerian female, born to consanguineous parents. Birth was via caesarean section at 37 weeks gestation due to severe intrauterine growth restriction: birth weight 1800 g (< - 3.66SD), h...

hrp0095p2-222 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

A rare case of Langerhans cell histiocytosis of the central nervous system in a child

Kherra Sakina , Haddad Karima , Boutaba Mounia , Bellouti Sihem , Sifour Latifa , Zeroual Zoulikha

Case presentation: We report the case of Imad, a 2-year- old Algerian boy referred with a 2-month history of polyuria and polydipsia. Diabetes insipidus was diagnosed by confirming hypernatremia with hyperosmolar serum and inappropriately dilute urine. His polyuria and polydipsia improved dramatically using the oral vasopressin analog. The child had no clinical signs of underlying disease, serum tumor markers were not detected and a skeletal survey suggested n...