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Related Experiment Videos

Facial appearance in persistent hyperinsulinemic hypoglycemia.

Pascale de Lonlay1, Valérie Cormier-Daire, Jeanne Amiel

  • 1Département de Pédiatrie, INSERM-U383, Hôpital Necker-Enfants Malades, Paris, France. pascale.de-lonlay@necker.fr

American Journal of Medical Genetics
|September 5, 2002
PubMed
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Persistent hyperinsulinism, a common cause of infant hypoglycemia, presents distinct facial features. These features, including a high forehead and smooth philtrum, may result from fetal insulin exposure.

Area of Science:

  • Pediatric Endocrinology
  • Medical Genetics
  • Clinical Dysmorphology

Background:

  • Persistent hyperinsulinism is the primary cause of recurrent hypoglycemia in infants, stemming from pancreatic insulin hypersecretion.
  • Pancreatic lesions causing hyperinsulinism can be focal or diffuse, each with unique molecular underpinnings.

Purpose of the Study:

  • To investigate and characterize the facial features in infants with persistent hyperinsulinism.
  • To determine if specific facial anomalies correlate with different molecular mechanisms or subtypes of hyperinsulinism.

Main Methods:

  • Facial features were studied in 17 unrelated patients with neonatal or infancy-onset hyperinsulinism.
  • Molecular analyses included mutation screening for SUR1, Kir6.2, and GLUD1, alongside assessment of maternal allele loss at 11p15.

Related Experiment Videos

  • Clinical data, including birth weight and absence of specific syndromes, were recorded.

    • Main Results:

    • Patients exhibited consistent facial traits: high forehead, small nasal tip, short columella, smooth philtrum, and thin upper lip, creating a bulbous nose appearance.
    • A square facial shape was more pronounced in younger patients.
    • While large birth weight was common (11/17), features of Wiedemann-Beckwith syndrome were absent. Molecular diagnoses varied, including focal adenomatous hyperplasia, diffuse hyperinsulinism, and hyperinsulinism with hyperammonemia.

    Conclusions:

    • A distinct set of facial features is associated with persistent hyperinsulinism, irrespective of its specific molecular cause.
    • These facial anomalies might be linked to fetal hyperinsulinism exposure, though not fully explained by current hypotheses.
    • The findings aid in recognizing hyperinsulinism and differentiating it from other conditions presenting with hypoglycemia or congenital anomalies.