title: [Donohue syndrome or leprechaunism].
abstract: Donohue 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.
authors.affiliation: 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.
authors.forename: D
authors.initials: D
authors.lastname: Planchenault
authors.affiliation: Service de génétique médicale et cytogénétique, centre hospitalier du Mans, 194, avenue Rubillard, 72037 Le Mans cedex 9, France.
authors.forename: D
authors.initials: D
authors.lastname: Martin-Coignard
authors.affiliation: Service de réanimation néonatale et pédiatrique, centre hospitalier du Mans, 194, avenue Rubillard, 72037 Le Mans cedex 9, France.
authors.forename: D
authors.initials: D
authors.lastname: Rugemintwaza
authors.affiliation: Service de réanimation néonatale et pédiatrique, centre hospitalier du Mans, 194, avenue Rubillard, 72037 Le Mans cedex 9, France.
authors.forename: A-G
authors.initials: AG
authors.lastname: Bah
authors.affiliation: Unité de spécialités pédiatriques, CHRU de Tours, hôpital Clocheville, 49, boulevard Béranger, 37044 Tours cedex 9, France.
authors.forename: L
authors.initials: L
authors.lastname: Cosson
authors.affiliation: Unité de spécialités pédiatriques, CHRU de Tours, hôpital Clocheville, 49, boulevard Béranger, 37044 Tours cedex 9, France.
authors.forename: F
authors.initials: F
authors.lastname: Labarthe
authors.affiliation: Unité de spécialités pédiatriques, CHRU de Tours, hôpital Clocheville, 49, boulevard Béranger, 37044 Tours cedex 9, France.
authors.forename: A
authors.initials: A
authors.lastname: Chantepie
authors.affiliation: Service de réanimation néonatale et pédiatrique, CHRU de Tours, hôpital Clocheville, 49, boulevard Béranger, 37044 Tours cedex 9, France.
authors.forename: E
authors.initials: E
authors.lastname: Saliba
mesh_terms: D015703:Antigens, CD / Q000235:genetics*; D001786:Blood Glucose / Q000378:metabolism; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D003241:Consanguinity; D004252:DNA Mutational Analysis; D056731:Donohue Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D004452:Echocardiography; D005091:Exons / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D005500:Follow-Up Studies; D006580:Genetic Carrier Screening; D006333:Heart Failure / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D007438:Introns / Q000235:genetics; D011972:Receptor, Insulin / Q000235:genetics*; D012770:Shock, Cardiogenic / Q000473:pathology
chemical_list: D015703:Antigens, CD; D001786:Blood Glucose; C435941:INSR protein, human; D011972:Receptor, Insulin