Protean Manifestations of Neonatal Hyperinsulinism

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Abstract
Endogenous hyperinsulinism is the leading cause of persistent hypoglycemia in children under 1 yr of age. Classically, the symptoms of neonatal hypoglycemia have been referrable to CNS dysfunction, with seizures described in nearly all patients. Experience with 8 neonates emphasizes the protean manifestations of this disease. One patient presented with a maternal history of diuretic use, and developed asymptomatic hyperinsulinism documented by provocative testing. The hyperinsulinism cleared after 2 wk of medical therapy. This transient hyperinsulinism may have been secondary to use of a thiazide-type diuretic. A 2nd patient presented as a neonate with a large abdominal mass but no seizure activity. Exploratory laparotomy revealed an 11 .times. 5 .times. 3 cm pancreatic tumor, which required splenectomy, 60% gastrectomy and duodenectomy for removal. Histologic examination demonstrated an insulin-secreting hamartoma. A 3rd patient died suddenly without prior symptoms and had striking nesidioblastosis on pathologic examination. One infant presented with absence of the abdominal musculature (prune belly syndrome), features of the Beckwith-Wiedeman syndrome and profound hypoglycemia. Only 3 patients had seizures, and an additional patient had jitteriness. Pathologic diagnosis were nesidioblastosis (2), islet cell hyperplasia (1), adenoma (1), hamartoma (1) and transient hyperinsulinism (1). One patient''s pancreas showed areas of nesidioblastosis, islet cell hyperplasia and a discrete adenoma in the region of the common bile duct. Careful diagnostic testing is essential in these patients, as hypoglycemia is poorly tolerated by neonates and infants. Using the diagnostic algorithm presented here, all patients'' endogenous hyperinsulinism was documented quickly and efficiently. Recognition of the broad spectrum of symptoms which these patients may present is essential if serious neurologic sequelae are to be avoided.