Hyperinsulinism
Congenital hyperinsulinism, also called nesidioblastosis, is a problem in babies in which insulin control is abnormal, causing low blood sugar. Patients with this syndrome may have signs of low blood sugar without actually having a high insulin level, showing that they have a problem with insulin control.
Congenital hyperinsulinism is a rare problem of sugar control in the body that has an incidence of 1 in 50,000 live births. Early symptoms include irritability, sweating, tremors, and seizures. Patients with repeated seizures can have permanent brain damage caused by very low blood sugar.
Pancreas tissue removed from infants treated for this problem vary; some had disease throughout the pancreas, others had small areas of disease, and some had entirely normal pancreas with no disease found. Surgery for patients with small areas of disease found in the pancreas can be expected to be satisfactory; patients with widespread disease caused by a genetic mutation seem to require a bigger operation.
To start, it is best to make the blood sugar normal with IV fluids containing sugar. After this, the medication diazoxide is given. If this does not work, then another medication, octreotide or glucagon, may be given. If all of this does not make the blood sugar normal and permit the patient to withstand a fast, surgery is advised.
The original surgery for this problem was removal of 75-80% of the pancreas without removing the spleen, but more recent recommendations are 95% to 98% removal of the pancreas (unless a small isolated abnormal area can be found. Then only this small area needs to be removed).
Some have questioned whether this big surgery is worth the potential increased risk of complications. The long-term results are usually good in patients who have had the big surgery, although many patients require medicines for 1 year after surgery. 20% to 30% of infants with this problem have some degree of long-term brain damage, emphasizing the need for early and aggressive treatment.
SUGGESTED READING
Cretolole C, Nihoul-Fekete C, Jan D, et al: Partial elective pancreatectomy is curative in focal form of permanent hyperinsulinism in infancy: A report of 45 cases from 1983 to 2000. J Pediatr Surg 37:155-158, 2002.
The use of portal venous sampling as a guide to pancreas surgery is discussed.
Lovvorn HN, Nance ML, Ferry RJ, et al: Congenital hyperinsulinism and the surgeon: Lessons learned over 35 years. J Pediatr Surg 34:786-793, 1999.
This article analyzes a large experience with congenital hyperinsulinism from the standpoint of genetics, medical and surgical treatment, and long-term risk of diabetes.
Article and graphics adapted from O'Neill: Principles of Pediatric Surgery. © 2003, Elsevier.