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- D Planchenault, D Martin-Coignard, D Rugemintwaza, A-G Bah, L Cosson, F Labarthe, A Chantepie, and E Saliba.
- Service de réanimation néonatale et pédiatrique, CHRU de Tours, hôpital Clocheville, 49, boulevard Béranger, 37044 Tours cedex 9, France. Electronic address: deborah.planchenault-2@etu.univ-tours.fr.
- Arch Pediatr. 2014 Feb 1; 21 (2): 206-10.
AbstractDonohue syndrome or leprechaunism is a severe congenital insulin-resistance syndrome. It is characterized by intra-uterine and neonatal growth retardation, typical dysmorphic features, and metabolic abnormalities with hyperinsulinism and hyperandrogenism. Problems in energy metabolism and loss of glucose homeostasis are responsible for early death in the first year of life. We describe a case with a novel homozygote mutation in the insulin receptor gene. This patient had hypertrophic cardiomyopathy with heart failure and bronchial compression leading to clinical deterioration over 5 days and subsequently death. A treatment with recombinant IGF-1 was tried without efficacy. Copyright © 2013 Elsevier Masson SAS. All rights reserved.
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