Format

Send to

Choose Destination
Clin Genet. 2018 Mar;93(3):687-692. doi: 10.1111/cge.13145. Epub 2018 Feb 5.

Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.

Author information

1
Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals, NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, UK.
2
Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK.
3
Department of Paediatric Endocrinology, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK.
4
Division of Developmental Biology and Medicine, School of Medical Sciences, University of Manchester, Manchester, UK.
5
Department of Paediatric Neurology, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK.

Abstract

The PI3K-AKT signalling cascade has a highly conserved role in a variety of processes including cell growth and glucose homoeostasis. Variants affecting this pathway can lead to one of several segmental overgrowth disorders. These conditions are genetically heterogeneous and require tailored, multidisciplinary involvement throughout life. Hypoglycaemia is common in other overgrowth syndromes but has been described only sporadically in association with PIK3CA and CCND2 variants. We report a cohort of 6 children with megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes who developed clinically significant hypoglycaemia. Based on our findings, we suggest that segmental overgrowth patients should be screened for low blood glucose levels during childhood and there should be early specialist endocrine review in any children who develop hypoglycaemia.

KEYWORDS:

CCND2; PIK3CA; hyperinsulinism; hypoglycaemia; overgrowth

PMID:
28941273
DOI:
10.1111/cge.13145

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center