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Licensed Unlicensed Requires Authentication Published by De Gruyter November 27, 2017

Sirolimus therapy for congenital hyperinsulinism in an infant with a novel homozygous KCNJ11 mutation

  • Sophy Korula EMAIL logo , Aaron Chapla , Leena Priyambada , Sarah Mathai and Anna Simon



Congenital hyperinsulinism results in refractory hypoglycemia. If a therapy with diazoxide has been unresponsive this has been treated by subtotal pancreatectomy in the past. This therapeutic option poses an increased risk of developing diabetes at a later stage. There have been a few case reports on the use of sirolimus in such situations in the recent past.

Case presentation:

Our patient was started on sirolimus very early, on day 29 of life and at the age of 14 months is doing well on sirolimus therapy. His growth and development have been good and he has not had any major complications so far. Genetic testing showed a novel KCNJ11 homozygous mutation on next generation sequencing and the parents were heterozygous carriers.


We report the successful use of sirolimus in the management of diazoxide unresponsive congenital hyperinsulinism with diffuse pancreatic involvement. We believe this is the youngest patient to be initiated on sirolimus so far.

Corresponding author: Dr. Sophy Korula, Associate Professor, Paediatric Endocrinology and Metabolism, Paediatric Unit 1, Christian Medical College and Hospital, Vellore, Tamil Nadu 632004, India


We acknowledge the guidance of Prof Khalid Hussain (Chief of Endocrinology Division, Department of Paediatric Medicine, Sidra Medical and Research Center, Doha) by email correspondence towards practical aspects of management of this patient on Sirolimus.

  1. Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

  2. Research funding: None declared.

  3. Employment or leadership: None declared.

  4. Honorarium: None declared.

  5. Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.


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Received: 2017-6-21
Accepted: 2017-10-9
Published Online: 2017-11-27
Published in Print: 2018-1-26

©2018 Walter de Gruyter GmbH, Berlin/Boston

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