Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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de Lonlay, P. et al.

de Lonlay, Cormier-Daire, Amiel, Touati, Goldenberg, Fournet, Brunelle, Nihoul-Fékété, Rahier, Junien, Robert, Saudubray,

Facial appearance in persistent hyperinsulinemic hypoglycemia.

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.[1]

References

Facial appearance in persistent hyperinsulinemic hypoglycemia. de Lonlay, P., Cormier-Daire, V., Amiel, J., Touati, G., Goldenberg, A., Fournet, J.C., Brunelle, F., Nihoul-Fékété, C., Rahier, J., Junien, C., Robert, J.J., Saudubray, J.M. Am. J. Med. Genet. (2002) [Pubmed]

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