Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease. Issue 1 (12th November 2019)

• Record Type: Journal Article
• Authors: Bursle, Carolyn; Yiu, Eppie M.; Yeung, Alison; Freeman, Jeremy L.; Stutterd, Chloe; Leventer, Richard J.; Vanderver, Adeline; Yaplito‐Lee, Joy
• Is Part Of: JIMD reports. Volume 51:Issue 1(2020)
• Page Start: 11
• Page End: 16
• Publication Date: 2019-11-12
• Subjects: EIF2B -- hyperinsulinism -- hypoglycemia -- leukodystrophy -- leukoencephalopathy -- vanishing white matter; Metabolism, Inborn errors of -- Periodicals; Metabolism -- Disorders -- Periodicals; 616.39042
• DOI: 10.1002/jmd2.12081
• Languages: English
• ISSNs: 2192-8304

Abstract

Abstract: 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.