Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease

Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease

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 detect...

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Bibliographic Details
Main Authors: Carolyn Bursle, Eppie M. Yiu, Alison Yeung, Jeremy L. Freeman, Chloe Stutterd, Richard J. Leventer, Adeline Vanderver, Joy Yaplito‐Lee
Format: Article
Language:English
Published: Wiley 2020-01-01
Series:JIMD Reports
Subjects:
EIF2B
hyperinsulinism
hypoglycemia
leukodystrophy
leukoencephalopathy
vanishing white matter
Online Access:https://doi.org/10.1002/jmd2.12081

Internet

https://doi.org/10.1002/jmd2.12081

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