Neonatal hyperinsulinism: clinicopathologic correlation

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Abstract

Neonatal hyperinsulinism is a life-threatening disease that, when treated by total pancreatectomy, leads to diabetes and pancreatic insufficiency. A more conservative approach is now possible since the separation of the disease into a nonrecurring focal form, which is cured by partial surgery, and a diffuse form, which necessitates total pancreas removal only in cases of medical treatment failure. The pathogenesis of the disease is now divided into K-channel disease (hyperinsulinemic hypoglycemia, familial [HHF] 1 and 2), which can mandate surgery, and other metabolic causes, HHF 3 to 6, which are treated medically in most patients. The diffuse form is inherited as a recessive gene on chromosome 11, whereas most cases of the focal form are caused by a sulfonylurea receptor 1 defect inherited from the father, which is associated with a loss of heterozygosity on the corresponding part of the mother's chromosome 11. The rare bifocal forms result from a maternal loss of heterozygosity specific to each focus. Paternal disomy of chromosome 11 is a rare cause of a condition similar to Beckwith-Wiedemann syndrome. A preoperative PET scan with fluorodihydroxyphenylalanine and perioperative frozen-section confirmation are the types of studies done before surgery when needed. Adult variants of the disease are less well defined at the present time. © 2007 Elsevier Inc. All rights reserved.

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Delonlay, P., Simon, A., Galmiche-Rolland, L., Giurgea, I., Verkarre, V., Aigrain, Y., … Jaubert, F. (2007). Neonatal hyperinsulinism: clinicopathologic correlation. Human Pathology, 38(3), 387–399. https://doi.org/10.1016/j.humpath.2006.12.007

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