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dc.contributor.authorGupta, A.
dc.contributor.authorReddy, C.
dc.contributor.authorSaini, L.
dc.contributor.authorYadav, J.
dc.contributor.authorKumar, R.
dc.contributor.authorHoughton, J.
dc.contributor.authorEllard, S.
dc.contributor.authorDayal, D.
dc.identifier.citationPediatr Endocrinol Diabetes Metab. 2021 Dec 20:44674. doi: 10.5114/pedm.2021.107719.
dc.description.abstractBACKGROUND: Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by neonatal diabetes mellitus (NDM), epiphyseal dysplasia, and hepatic and renal dysfunction. Although neuro-psychological features are common in patients with WRS, malformations of cortical development (MCDs) are rarely reported. CASE PRESENTATION: A 3-month-old boy, born to non-consanguineous parents, presented with right focal seizures since two months of age and recently detected diabetes mellitus. He also had a small head and lissencephaly-pachygyria spectrum on brain imaging. Genetic testing confirmed the diagnosis of WRS by identifying a biallelic homozygous deletion of exon 1 in the EIF2AK3 gene. The child achieved reasonable glycemic control on the basal-bolus insulin regimen. CONCLUSIONS: Presentation of WRS may occur with neurological manifestations such as lissencephaly-pachygyria spectrum. Early confirmation of the genetic diagnosis of WRS by screening for pathogenic variants in the EIF2AK3 gene is important in children with NDM and associated syndromic features. Establishing the diagnosis of WRS helps in predicting the development of subsequent clinical features, guides management, and may improve patient outcomes.
dc.rights© Copyright by PTEiDD 2021
dc.subjectEIF2AK3 gene
dc.subjectmalformations of cortical development
dc.subjectmonogenic diabetes
dc.subjectneonatal diabetes mellitus
dc.subjectWolcott-Rallison syndrome
dc.titleLissencephaly-pachygyria spectrum in a North Indian boy with Wolcott-Rallison syndrome due to homozygous deletion of exon 1 in the EIF2AK3 gene
dc.typeCase Reports
dc.identifier.journalPediatric endocrinology, diabetes, and metabolism
dc.description.noteThe article is available via Open Access. Click on the 'Additional link' above to access the full-text.

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