| Facial appearance in persistent hyperinsulinemic hypoglycemia. | |
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MedLine Citation:
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PMID: 12210338 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Persistent hyperinsulinism is the most common cause of recurrent hypoglycemia in infancy because of inappropriate oversecretion of insulin by the pancreas. Pancreatic lesions can be either focal or diffuse, and they have distinct molecular bases. We have studied the facial features in 17 unrelated patients presenting with neonatal (n = 8) or infancy-onset (n = 9) hyperinsulinism. Hyperinsulinism was related to focal adenomatous hyperplasia (n = 7), diffuse hyperinsulinism (n = 5), non-operated hyperinsulinism (n = 2), and hyperinsulinism with hyperammonemia (n = 3). SUR1 or Kir6.2 mutations were found in six of seven focal adenomatous hyperplasia and three of five diffuse hyperinsulinism. A loss of the maternal allele from chromosome 11p15 in the lesion was found in all focal adenomatous hyperplasia. GLUD1 mutations were found in all patients with hyperammonemia. Large birth weight (mean > 3,800 g) was consistently observed (11/17) but protruding tongue, exomphalos, or visceromegaly were never noted and Wiedemann-Beckwith syndrome could always be ruled out. All patients presented with high forehead, small nasal tip, and short columella giving the impression that the nose is large and bulbous, smooth philtrum, and thin upper lip. A square appearance to the face was more obvious in younger patients. These specific facial features, observed in patients with hyperinsulinism of various molecular mechanisms, could be the consequence of fetal intoxication by insulin. However, to date, facial anomalies have not been noted in infants of diabetic mothers and inversely, malformations that are commonly reported in infants of diabetic mothers were not present in our hyperinsulinemic patients. |
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Authors:
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Pascale de Lonlay; Valérie Cormier-Daire; Jeanne Amiel; Guy Touati; Alice Goldenberg; Jean-Christophe Fournet; Francis Brunelle; Claire Nihoul-Fékété; Jacques Rahier; Claudine Junien; Jean-Jacques Robert; Jean-Marie Saudubray |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 111 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 2002 Aug |
Date Detail:
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Created Date: 2002-09-04 Completed Date: 2003-01-31 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: United States |
Other Details:
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Languages: eng Pagination: 130-3 Citation Subset: IM |
Copyright Information:
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Copyright 2002 Wiley-Liss, Inc. |
Affiliation:
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Département de Pédiatrie, INSERM-U383, Hôpital Necker-Enfants Malades, Paris, France. pascale.de-lonlay@necker.fr |
| Data Bank Information | |
Bank Name/Acc. No.:
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OMIM/600509; 600937 |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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ATP-Binding Cassette Transporters* Child, Preschool Chromosomes, Human, Pair 11 / genetics Face / abnormalities* Facial Bones / abnormalities* GTP Phosphohydrolases / genetics Glutamate Dehydrogenase / genetics Humans Hyperinsulinism / complications*, genetics Hypoglycemia / etiology* Immediate-Early Proteins / genetics Infant Monomeric GTP-Binding Proteins / genetics Multidrug Resistance-Associated Proteins* Mutation Potassium Channels, Inwardly Rectifying Protein-Serine-Threonine Kinases / genetics Protein-Tyrosine Kinases / genetics Receptors, Drug |
| Chemical | |
Reg. No./Substance:
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0/ATP-Binding Cassette Transporters; 0/Immediate-Early Proteins; 0/Multidrug Resistance-Associated Proteins; 0/Potassium Channels, Inwardly Rectifying; 0/Receptors, Drug; 0/sulfonylurea receptor; EC 1.4.1.2/Glutamate Dehydrogenase; EC 2.7.10.1/Protein-Tyrosine Kinases; EC 2.7.11.1/Protein-Serine-Threonine Kinases; EC 3.6.1.-/GTP Phosphohydrolases; EC 3.6.5.2/GEM protein, human; EC 3.6.5.2/Monomeric GTP-Binding Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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