Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease.

Autor: Bursle C; Department of Metabolic Medicine Royal Children's Hospital Melbourne Australia., Yiu EM; Department of Neurology Royal Children's Hospital Melbourne Australia.; Murdoch Children's Research Institute Melbourne Australia.; Department of Paediatrics University of Melbourne Melbourne Australia., Yeung A; Murdoch Children's Research Institute Melbourne Australia.; Victorian Clinical Genetics Service Melbourne Australia., Freeman JL; Department of Neurology Royal Children's Hospital Melbourne Australia.; Murdoch Children's Research Institute Melbourne Australia., Stutterd C; Murdoch Children's Research Institute Melbourne Australia.; Victorian Clinical Genetics Service Melbourne Australia., Leventer RJ; Department of Neurology Royal Children's Hospital Melbourne Australia.; Murdoch Children's Research Institute Melbourne Australia.; Department of Paediatrics University of Melbourne Melbourne Australia., Vanderver A; Victorian Clinical Genetics Service Melbourne Australia.; Neurology Department Children's Hospital of Philadelphia Philadelphia Pennsylvania., Yaplito-Lee J; Department of Metabolic Medicine Royal Children's Hospital Melbourne Australia.
Jazyk: angličtina
Zdroj: JIMD reports [JIMD Rep] 2019 Nov 12; Vol. 51 (1), pp. 11-16. Date of Electronic Publication: 2019 Nov 12 (Print Publication: 2020).
DOI: 10.1002/jmd2.12081
Abstrakt: We report two unrelated patients with infantile onset leukoencephalopathy with vanishing white matter (VWM) and hyperinsulinaemic hypoglycaemia. To our knowledge, this association has not been described previously. Both patients had compound heterozygous pathogenic variants in EIF2B4 detected on exome sequencing and absence of other variants which might explain the hyperinsulinism. Hypoglycaemia became apparent at 6 and 8 months, respectively, although in one patient, transient neonatal hypoglycaemia was also documented. One patient responded to diazoxide and the other was managed with continuous nasogastric feeding. We hypothesise that the pathophysiology of hyperinsulinism in VWM may involve dysregulation of transcription of genes related to insulin secretion.
(© 2019 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.)
Databáze: MEDLINE
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