Congenital Hyperinsulinism Clinical Presentation

  • Author: Robert S Gillespie, MD, MPH; Chief Editor: Stephen Kemp, MD, PhD   more...
 
Updated: Jan 5, 2012
 

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.

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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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Contributor Information and Disclosures
Author

Robert S Gillespie, MD, MPH  Physician, Department of Pediatrics, Cook Children's Medical Center

Robert S Gillespie, MD, MPH is a member of the following medical societies: American Society of Nephrology, American Society of Pediatric Nephrology, and Texas Medical Association

Disclosure: Nothing to disclose.

Coauthor(s)

Stephen Ponder, MD, CDE  Director, Division of Pediatric Endocrinology, Department of Pediatrics, Driscoll Children's Hospital; Professor, Texas A&M College of Medicine

Stephen Ponder, MD, CDE is a member of the following medical societies: American Academy of Pediatrics, American Diabetes Association, Endocrine Society, Pediatric Endocrine Society, and Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

Chief Editor

Stephen Kemp, MD, PhD  Professor, Department of Pediatrics, Section of Pediatric Endocrinology, University of Arkansas for Medical Sciences College of Medicine, Arkansas Children's Hospital

Stephen Kemp, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, American Pediatric Society, Endocrine Society, Phi Beta Kappa, Southern Medical Association, and Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

Additional Contributors

George P Chrousos, MD, FAAP, MACP, MACE, FRCP(London) Professor and Chair, First Department of Pediatrics, Athens University Medical School, Aghia Sophia Children's Hospital, Greece; UNESCO Chair on Adolescent Health Care, University of Athens, Greece

George P Chrousos, MD, FAAP, MACP, MACE, FRCP(London) is a member of the following medical societies: American Academy of Pediatrics, American College of Endocrinology, American College of Physicians, American Pediatric Society, American Society for Clinical Investigation, Association of American Physicians, Endocrine Society, Pediatric Endocrine Society, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Thomas A Wilson, MD Professor of Clinical Pediatrics, Chief and Program Director, Division of Pediatric Endocrinology, Department of Pediatrics, The School of Medicine at Stony Brook University Medical Center

Thomas A Wilson, MD is a member of the following medical societies: Endocrine Society, Pediatric Endocrine Society, and Phi Beta Kappa

Disclosure: Nothing to disclose.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

References

  1. Laidlaw GF. Nesidioblastoma, the islet tumor of the pancreas. Am J Path. 1938;14:125-34.

  2. Glaser B, Thornton P, Otonkoski T, Junien C. Genetics of neonatal hyperinsulinism. Arch Dis Child Fetal Neonatal Ed. Mar 2000;82(2):F79-86. [Medline]. [Full Text].

  3. Fournet JC, Verkarre V, De Lonlay P, et al. Loss of imprinted genes and paternal SUR1 mutations lead to hyperinsulinism in focal adenomatous hyperplasia. Ann Endocrinol (Paris). 1998;59(6):485-91. [Medline].

  4. Service GJ, Thompson GB, Service FJ, et al. Hyperinsulinemic hypoglycemia with nesidioblastosis after gastric-bypass surgery. N Engl J Med. Jul 21 2005;353(3):249-54. [Medline].

  5. Lovvorn HN 3rd, Nance ML, Ferry RJ Jr, et al. Congenital hyperinsulinism and the surgeon: lessons learned over 35 years. J Pediatr Surg. May 1999;34(5):786-92; discussion 792-3. [Medline].

  6. Gussinyer M, Clemente M, Cebrián R, Yeste D, Albisu M, Carrascosa A. Glucose intolerance and diabetes are observed in the long-term follow-up of nonpancreatectomized patients with persistent hyperinsulinemic hypoglycemia of infancy due to mutations in the ABCC8 gene. Diabetes Care. Jun 2008;31(6):1257-9. [Medline].

  7. Otonkoski T, Näntö-Salonen K, Seppänen M, et al. Noninvasive diagnosis of focal hyperinsulinism of infancy with [18F]-DOPA positron emission tomography. Diabetes. Jan 2006;55(1):13-8. [Medline].

  8. Hardy OT, Hernandez-Pampaloni M, Saffer JR, et al. Diagnosis and localization of focal congenital hyperinsulinism by 18F-fluorodopa PET scan. J Pediatr. Feb 2007;150(2):140-5. [Medline].

  9. Thornton PS, Alter CA, Katz LE, Baker L, Stanley CA. Short- and long-term use of octreotide in the treatment of congenital hyperinsulinism. J Pediatr. Oct 1993;123(4):637-43. [Medline].

  10. Aynsley-Green A, Hussain K, Hall J, et al. Practical management of hyperinsulinism in infancy. Arch Dis Child Fetal Neonatal Ed. Mar 2000;82(2):F98-F107. [Medline]. [Full Text].

  11. Bas F, Darendeliler F, Demirkol D, Bundak R, Saka N, Günöz H. Successful therapy with calcium channel blocker (nifedipine) in persistent neonatal hyperinsulinemic hypoglycemia of infancy. J Pediatr Endocrinol Metab. Nov-Dec 1999;12(6):873-8. [Medline].

  12. Mazor-Aronovitch K, Gillis D, Lobel D, et al. Long-term neurodevelopmental outcome in conservatively treated congenital hyperinsulinism. Eur J Endocrinol. Oct 2007;157(4):491-7. [Medline].

  13. Robertson RP, Lanz KJ, Sutherland DE, Kendall DM. Prevention of diabetes for up to 13 years by autoislet transplantation after pancreatectomy for chronic pancreatitis. Diabetes. Jan 2001;50(1):47-50. [Medline].

  14. Boulanger C, Vezzosi D, Bennet A, Lorenzini F, Fauvel J, Caron P. Normal pregnancy in a woman with nesidioblastosis treated with somatostatin analog octreotide. J Endocrinol Invest. May 2004;27(5):465-70. [Medline].

 
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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.
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.
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.
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.
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.
 
 
 
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