Journal article

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

Carolyn Bursle, Eppie M Yiu, Alison Yeung, Jeremy L Freeman, Chloe Stutterd, Richard J Leventer, Adeline Vanderver, Joy Yaplito-Lee

JIMD Reports | Wiley | Published : 2020


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 invol..

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