[Donohue syndrome or leprechaunism]
| Autor: | D, Planchenault, D, Martin-Coignard, D, Rugemintwaza, A-G, Bah, L, Cosson, F, Labarthe, A, Chantepie, E, Saliba |
|---|---|
| Jazyk: | francouzština |
| Rok vydání: | 2013 |
| Předmět: |
Blood Glucose
Heart Failure Donohue Syndrome Genetic Carrier Screening DNA Mutational Analysis Homozygote Infant Newborn Shock Cardiogenic Exons Cardiomyopathy Hypertrophic Introns Receptor Insulin Consanguinity Fatal Outcome Antigens CD Echocardiography Humans Female Chromosomes Human Pair 19 Follow-Up Studies |
| Zdroj: | Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 21(2) |
| ISSN: | 1769-664X |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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