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Licensed Unlicensed Requires Authentication Published by De Gruyter July 30, 2015

Efficacy and safety of sirolimus in a neonate with persistent hypoglycaemia following near-total pancreatectomy for hyperinsulinaemic hypoglycaemia

Mary B. Abraham EMAIL logo , Vinutha B. Shetty , Glynis Price , Nicholas Smith , Martin de Bock , Aris Siafarikas , Steven Resnick , Elizabeth Whan , Sian Ellard , Sarah E. Flanagan , Elizabeth A. Davis , Timothy W. Jones , Khalid Hussain and Catherine S. Choong EMAIL logo

Abstract

Hyperinsulinaemic hypoglycaemia (HH) is characterised by inappropriate insulin secretion and is the most common cause for persistent neonatal hypoglycaemia. The only treatment available for medically unresponsive hypoglycaemia is a near-total pancreatectomy. A neonate with severe HH, due to a homozygous ABCC8 mutation, was not responsive to treatment with maximal doses of diazoxide and subcutaneous daily octreotide, and underwent a near-total pancreatectomy; however, hypoglycaemia persisted. Introduction of sirolimus, an mTOR (mammalian target of rapamycin) inhibitor, obviated the requirement for glucose infusion. Euglycaemia was achieved with no significant adverse events from the drug. Sirolimus therapy was ceased at 13 months of age. No episodes of persistent hypoglycaemia were observed after cessation of sirolimus. This report demonstrates the successful use of sirolimus for persistent hypoglycaemia in the critically ill infant post pancreatectomy. Sirolimus could be considered in patients with severe HH not responsive to conventional medical and surgical therapy. However, the long-term efficacy and safety with this immunosuppressive drug in very young patients are not assured.


Corresponding authors: Dr. Mary B. Abraham and Prof. Catherine S. Choong, Department of Endocrinology, Princess Margaret Hospital, Perth, Western Australia 6008, Australia; and School of Paediatrics and Child Health, The University of Western Australia, Perth, Australia, Phone: +61 8 93408090, Fax: +61 8 93408605, E-mail: (Mary B. Abraham); (Catherine S. Choong)

Acknowledgments

MA is the recipient of the Channel 7 Telethon Research Fellowship 2014.

Conflict of interest statement

Disclosure statement: The authors have nothing to disclose.

Authors’ contribution: MA collated the clinical information of the case and wrote the manuscript. VS, GP, MB, AS, ED, TJ, SR and EW provided the clinical details and offered critical input. KH, SE and SF provided the genetic analyses and additional expert opinion. CSC oversaw all aspects of the manuscript and edited the manuscript. All authors approved of the final version of the manuscript.

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Received: 2015-2-19
Accepted: 2015-7-8
Published Online: 2015-7-30
Published in Print: 2015-11-1

©2015 by De Gruyter

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