The surgical management of congenital hyperinsulinemic hypoglycemia in infancy.

BACKGROUND: Congenital hyperinsulinism (CHI) is characterized by profound hypoglycaemia caused by inappropriate insulin secretion. CHI is a heterogeneous disorder with at least 2 histologic lesions and several implicated genes. If CHI is caused by a focal lesion, elective surgery is the only treatment because it leads to complete recovery without diabetes; on the contrary, diffuse CHI can only be cured by near-total pancreatectomy, and medical treatment, if efficient, is preferable. It is therefore mandatory to distinguish the 2 forms of CHI, and the surgeon has to fullfill his role in the multidisciplinary team that deals with CHI. METHODS: A total of 134 patients with CHI were investigated both radiologically and with molecular biology. Pathology was the only proof of focal or diffuse lesions, and the pancreatic tissue could be studied by electrophysiology (Katp and Ca channels) and gene study. RESULTS: In 59 infants with CHI, a focal lesion was suspected by radiology and proved by extemporaneous pathology; partial pancreatectomy (33 tail +/- body, 19 head, 5 isthmus resections) was performed, and molecular biology and histochemistry confirmed the genetic lesion specific to the focal disease; 75 near-total pancreatectomies were necessary in diffuse disease to prevent brain damage. CONCLUSIONS: CHI is a severe brain-threatening disease. Surgery is indicated in all focal diseases, providing they are diagnosed preoperatively. In diffuse disease with resistance to medical treatment, near-total pancreatectomy is a last resort option that hopefully will be improved in the future with culture of beta cells and genetic modification of the beta cell disease before autograft.