• Marta Minute, Giuseppa Patti, Gianluca Tornese, Elena Faleschini, Chiara Zuiani, and Alessandro Ventura.
• University of Trieste, Trieste, Italy; and martaminute@gmail.com.
• Pediatrics. 2015 Nov 1; 136 (5): e1373-6.

AbstractCongenital hyperinsulinism (CHI) due to diffuse involvement of the pancreas is a challenging and severe illness in children. Its treatment is based on chronic therapy with diazoxide and/or octreotide, followed by partial pancreatectomy, which is often not resolutive. Sirolimus, a mammalian target of rapamycin inhibitor, was reported to be effective in treating CHI in infants. We report here the case of an 8-year-old boy affected by a severe form of CHI due to a biallelic heterozygous ABCC8 mutation who responded to sirolimus with a dramatic improvement in his glucose blood level regulation and quality of life, with no serious adverse events after 6 months of follow-up. To the best of our knowledge, this is the first report of a successful intervention in an older child. It provides a promising basis for further studies comparing sirolimus with other treatments, particularly in older children.Copyright © 2015 by the American Academy of Pediatrics.

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