History
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.
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Pancreatic specimen showing congenital hyperinsulinism (CHI) viewed at low power. Paler-staining cells are neuroendocrine (islet) cells, which should be arranged in discrete islands within acinar lobules. Acinar cells are exocrine cells that have denser-staining, dark eosinophilic cytoplasm. These acinar cells are arranged in acini. In CHI, more neuroendocrine cells are present, and they are arranged more diffusely throughout the lobules. Image courtesy of Phil Collins, MD.
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Pancreatic specimen showing diffuse congenital hyperinsulinism (CHI) viewed at medium power. Paler-staining cells are neuroendocrine (islet) cells, which should be arranged in discrete islands within acinar lobules. Acinar cells are exocrine cells that have denser-staining, dark eosinophilic cytoplasm. These acinar cells are arranged in acini. In CHI, more neuroendocrine cells are present, and they are arranged more diffusely throughout lobules. Image courtesy of Phil Collins, MD.
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Pancreatic specimen showing diffuse congenital hyperinsulinism (CHI) viewed at high power. Paler-staining cells are neuroendocrine (islet) cells, which should be arranged in discrete islands within acinar lobules. Acinar cells are exocrine cells that have denser-staining, dark eosinophilic cytoplasm. These acinar cells are arranged in acini. In CHI, more neuroendocrine cells are present, and they are arranged more diffusely throughout lobules. Image courtesy of Phil Collins, MD.
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Normal pancreas. There are fewer paler-staining neuroendocrine (islet) cells, and they are arranged in more discrete islands. Image courtesy of Tom Milligan, MD, Driscoll Children's Hospital, Corpus Christi, Tex.
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Combined positron emission tomography (PET)/computed tomography (CT) scan of focal lesion in head of pancreas of infant with congenital hyperinsulinism. Uptake of 18F-L-DOPA glows brightly in head of pancreas (center), pinpointing abnormal cells in focal hyperinsulinism. Large glowing areas lower in image are kidneys, where 18F-L-DOPA is excreted. Image courtesy of Charles Stanley, MD, Children's Hospital of Philadelphia.
