MECASERMIN TREATMENT OF A CHILD WITH CONGENITAL HYPERINSULINISM LINKED TO INS-R MUTATION

Objectives: Mecasermin is recombinant human insulin-like growth factor 1 (IGF1) which is approved for the treatment of short stature in children with documented primary IGF1 deficiency. Leprechaunism, also known as Donohue syndrome, is a severe disease, secondary to a severe congenital insulin resistance, with prenatal and neonatal growth retardation, typical dysmorphic features, glycaemic dysregulation characterized by hyperinsulinemia and hyperandrogenism. These patients have a poor prognosis with death in the first year of life. Methods: We describe the case of a 3.5 years child, born at 35,4 weeks, with severe fetal growth restriction (weight 1149 gr; length: 38 cm; cranial circumferenc…

TERAPIA CON MECASERMINA IN UN BAMBINO CON IPERINSULINISMO CONGENITO DA MUTAZIONE DI INS-R

PRESENTAZIONE DEL CASO, STORIA CLINICA E SINTOMATOLOGIA L’uso per fi ni terapeutici della Mecasermina, insulin-like growth factor 1 (IGF1) umano ricombinante trova indicazione nella terapia della bassa statura di bambini con un defi cit primitivo documentato di IGF-1. Il Leprecaunismo, noto come S. di Donohue, è una rara patologia congenita caratterizzata da insulino-resistenza, severo defi cit accrescitivo intra-uterino e post-natale, fenotipie caratteristiche, alterazione del controllo dell’assetto glicemico, con iperinsulinismo e iperandrogenismo associato. L’outcome prognostico è segnato da morte entro il primo anno di vita in quasi tutti i pazienti descritti. Descriviamo l’outcome di u…

Congenital Hyperinsulinism Linked to INS-R Mutation: Case Report

40(th) EASD Annual Meeting of the European Association for the Study of Diabetes : Munich, Germany, 5-9 September 2004

Efficacy of Mecasermin Treatment and Long-Term Survival in a Child with Leprechaunism

Homozygous mutation of Insulin receptor (INS-R) gene cause an extremely rare disease called Leprechaunism, and induce intrauterine growth restriction with poor postnatal growth, hyperinsulinemia, postprandial hyperglycaemia, pre-prandial hypoglycaemia, typical facies, lack of subcutaneous fat, thick skin, hypertrichosis, macrogenitosomia in males. The survival is severely compromised in these patients. Treatment with diazoxide could ameliorate glycaemic control, however these patients are signed by a high precocious lethality into the first 1-2 years of life. Anecdotical cases are described with a longer survival. We describe the clinical case of a child with Leprechaunism, born from consan…