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Clinics and Practice
Volume 6
Issue 3
10.4081/cp.2016.848
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Clinics and Practice is published by MDPI from Volume 11 Issue 1 (2021). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.
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Case Report

Persistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature Review

by
Hobia Gole
1,2,3,
Raymond Chuk
1,2,3 and
David Coman
1,2,3,4,5,*
1
Department of Paediatrics, The Wesley Hospital, 40 Chasley Street, Auchenflower, Brisbane 4066, Australia
2
Uniting Care Clinical School, The Wesley Hospital, 40 Chasley Street, Auchenflower, Brisbane 4066, Australia
3
School of Medicine, The University of Queensland, Brisbane 4066, Australia
4
School of Medicine, Griffith University, Gold Coast, Australia
5
Department of Metabolic Medicine, The Lady Cilento Children’s Hospital, Brisbane 4066, Australia
*
Author to whom correspondence should be addressed.
Clin. Pract. 2016, 6(3), 848; https://doi.org/10.4081/cp.2016.848
Submission received: 24 March 2016 / Revised: 24 March 2016 / Accepted: 4 August 2016 / Published: 23 August 2016

Abstract

Kabuki syndrome is a clinically and genetically heterogeneous congenital malformation syndrome with protean clinical manifestations. This reflects the important epigenetic role in embryonic development of the two genes currently known to be associated with Kabuki syndrome i.e., KMT2D and KDM6A, which are responsible for Kabuki syndrome 1 and Kabuki syndrome 2, respectively. Hypoglycemia is thought to be a rare manifestation of Kabuki syndrome; however it may be under diagnosed. Herein we describe the case of a 5-year-old girl with Kabuki syndrome 2 in whom persistent hyperinsulinism was diagnosed at 4 years of age. We postulate an epigenetic mechanism for hyperinsulinism where specific loss KDM6A demethylation of the H3K27me3/me2 mark may lead to deregulated pancreatic β-cell development.
Keywords: Kabuki syndrome; hyperinsulinism; hypoglycemia; epigenetics Kabuki syndrome; hyperinsulinism; hypoglycemia; epigenetics

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MDPI and ACS Style

Gole, H.; Chuk, R.; Coman, D. Persistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature Review. Clin. Pract. 2016, 6, 848. https://doi.org/10.4081/cp.2016.848

AMA Style

Gole H, Chuk R, Coman D. Persistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature Review. Clinics and Practice. 2016; 6(3):848. https://doi.org/10.4081/cp.2016.848

Chicago/Turabian Style

Gole, Hobia, Raymond Chuk, and David Coman. 2016. "Persistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature Review" Clinics and Practice 6, no. 3: 848. https://doi.org/10.4081/cp.2016.848

APA Style

Gole, H., Chuk, R., & Coman, D. (2016). Persistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature Review. Clinics and Practice, 6(3), 848. https://doi.org/10.4081/cp.2016.848

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