ESPE Abstracts (2014) 82 P-D-3-1-706

Congenital Hyperinsulinism Linked to INS-R Mutation: Case Report

Marcello Vitalitid, Maria Cristina Maggioa, Giuliana Vitalitia, Valeria Grassob, Amalia Ciofalod, Grazia Rinaudoa, Elisa Tranchinad, Giuseppina Costantinod, Giovanni Corselloa & Fabrizio Barbettib,c


aUniversitary Department Pro.Sa.M.I. ‘G. D’Alessandro’, University of Palermo, Palermo, Italy; b‘Bambino Gesù’ Pediatric Hospital IRCCS, Rome, Italy; c‘Tor Vergata’ University, Rome, Italy; dNeonatology Intensive Care Unit, ARNAS Civico, Palermo, Italy


Background: Leprechaunism, also known as Donohue syndrome, is due to a severe congenital insulin-resistance, with prenatal and neonatal growth retardation, typical dysmorphic features, glycaemic dysregulation with hyperinsulinism and hyperandrogenism.

Objective and hypotheses: These patients have a poor prognosis with death in the first year of life.

Method: We report the case of a newborn (35.4 weeks) with severe fetal growth restriction (weight: 1149 g; length: 38 cm; and cranial circumference: 28 cm), facial dysmorphic features with low implant ears, low implant hairs, hypertrichosis, hypertrophic external genitalia, and postnatal growth failure. This patient showed significant hyperglycaemic (327 mg/dl) alternated with hypoglycaemic values (10 mg/dl) also during infusion of significant dose of i.v. glucose (12 mg/kg per min), significant hyperinsulinism (1000 μU/dl) with elevated C peptide levels (43.41 ng/ml), persistent hypertension (113/74 mmHg). He has consanguineous parents (cousins).

Results: A treatment with diazoxide (5 mg/kg per day) was tried with limited efficacy. He was treated with ACE-inhibitor (Captopril) at the dose of 0.02 mg/kg per day with a low response. The Captopril dose was increased at 0.04 mg/kg per day with a regulation of the blood pressure (76/54 mmHg).

Conclusion: The genetic study of INS-R was performed. He presented a homozygote mutation in the insulin receptor (INS-R) gene. The mutation reported was c.3289C>T (CAG→TAG) p.Gln1097Stop (Q1097X).

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