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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 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.

SUBMITTER: Bursle C

PROVIDER: S-EPMC7012737 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature

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

Bursle Carolyn C Yiu Eppie M EM Yeung Alison A Freeman Jeremy L JL Stutterd Chloe C Leventer Richard J RJ Vanderver Adeline A Yaplito-Lee Joy J

JIMD reports 20191112 1

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 <i>EIF2B4</i> 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 h ...[more]

PMID: 32071834

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Defective glial maturation in vanishing white matter disease.

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Cortical pathology in Vanishing white matter

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2023-01-02 | PXD030831 | Pride

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Guanabenz ameliorates disease in vanishing white matter mice in contrast to sephin1.

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