Clinical presentation and management of children with diffuse and focal hyperinsulinism: a review of 223 cases.

CONTEXT: Congenital hyperinsulinism (HI) occurs in two distinct histologic forms: diffuse and focal. Distinguishing between them is essential because a pancreatectomy is curative for focal HI and palliative for diffuse HI.

OBJECTIVE: The purpose of this study was to compare the presentations, treatment, and outcomes of diffuse and focal HI.

DESIGN: A retrospective chart review of children who underwent pancreatectomy for hyperinsulinism from December 2004 through September 2012 was conducted.

RESULTS: Based on pancreatic histology, 223 children were classified into 3 groups: diffuse (n = 97, 44%), focal (n = 114, 51%), and other (n = 12, 5%). Children with diffuse vs focal HI had significantly different mean gestational ages (38 vs 39 weeks, P < .0005) and birth weights (3963 vs 3717 g P = .012). Children with focal HI presented at an older age (0.3 vs 0 months, P < .0005) and more frequently with seizures (50 vs 25%, P < .0005). Children with diffuse HI had higher insulin levels during hypoglycemia (31.8 vs 12 μU/mL, P < .0005) and required higher glucose infusion rates (19.2 vs 16.1 mg/kg/min, P = .002). Children with diffuse HI had a median percent pancreactectomy of 98%, and postoperatively 41% required treatment for continued hypoglycemia. Children with focal HI had a median percent pancreatectomy rate of 27%, and 94% required no treatment after surgery.

CONCLUSIONS: Focal and diffuse HI present unique challenges, but the clinical differences between the 2 are subtle. Children with focal HI are at higher risk of delayed diagnosis and hypoglycemic seizures, but most are cured with surgery. In contrast, children with diffuse disease may be identified earlier, but face ongoing blood glucose abnormalities.