Open AccessHyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease
Author(s) -
Bursle Carolyn,
Yiu Eppie M.,
Yeung Alison,
Freeman Jeremy L.,
Stutterd Chloe,
Leventer Richard J.,
Vanderver Adeline,
YaplitoLee Joy
Publication year - 2020
Publication title -
jimd reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.412
H-Index - 25
ISSN - 2192-8312
DOI - 10.1002/jmd2.12081
Subject(s) - congenital hyperinsulinism , diazoxide , hyperinsulinism , medicine , pathophysiology , leukoencephalopathy , endocrinology , exome sequencing , disease , insulin , mutation , biology , insulin resistance , genetics , gene
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.