Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease

JIMD Reports

卷:51

Carolyn Bursle¹  Joy Yaplito‐Lee¹  Richard J. Leventer²  Eppie M. Yiu²  Jeremy L. Freeman²  Alison Yeung³  Chloe Stutterd³  Adeline Vanderver⁴ 

[1] Department of Metabolic Medicine Royal Children's Hospital Melbourne Australia;

[2] Department of Neurology Royal Children's Hospital Melbourne Australia;

[3] Murdoch Children's Research Institute Melbourne Australia;

[4] Victorian Clinical Genetics Service Melbourne Australia;

关键词: EIF2B;    hyperinsulinism;    hypoglycemia;    leukodystrophy;    leukoencephalopathy;    vanishing white matter;   

DOI  :  10.1002/jmd2.12081

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown