Congenital Hyperinsulinism Clinical Presentation

Updated: Dec 16, 2015
  • Author: Robert S Gillespie, MD, MPH; Chief Editor: Stephen Kemp, MD, PhD  more...
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A number of symptoms are commonly observed in the history of patients with congenital hyperinsulinism (CHI).

Most patients with CHI (ie, persistent hyperinsulinemic hypoglycemia of infancy [PHHI]) present shortly after birth with symptoms of hypoglycemia (eg, hunger, jitteriness, lethargy, apnea, seizures). Older children, in addition to these symptoms, may also show diaphoresis, confusion, or unusual mood or behavior changes.

Hypoglycemia is persistent, requiring frequent or continuous glucose infusions or feedings to maintain adequate blood glucose levels.

Presenting symptoms of CHI reported in adults include confusion, headaches, dizziness, syncope, and loss of consciousness. The symptoms may be exacerbated by fasting and may improve after eating.


Physical Examination

A thorough physical examination is essential. The physical examination findings are usually normal when the patient is euglycemic. No characteristic visual, auscultatory, or tactile findings are associated with CHI.

The presence of hepatomegaly suggests a metabolic disorder, such as glycogen storage disease, galactosemia, or fructosemia. The presence of syndromic or dysmorphic features suggests a different diagnosis. CHI is not usually associated with a genetic syndrome or characteristic physical features.

Infants may be large for their gestational age because of the influence of chronic hyperinsulinism in utero. Older children and adults may have signs of residual neurologic damage from episodes of prolonged hypoglycemia. These signs may vary widely.