Lissencephaly-pachygyria spectrum in a North Indian boy with Wolcott-Rallison syndrome due to homozygous deletion of exon 1 in the EIF2AK3 gene

Atul Gupta; Chaithanya Reddy; Lokesh Saini; Jaivinder Yadav; Rakesh Kumar; Jayne Houghton; Sian Ellard; Devi Dayal

doi:10.5114/pedm.2021.107719

eISSN: 2083-8441
ISSN: 2081-237X

Pediatric Endocrinology Diabetes and Metabolism

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abstract:

Case report

Lissencephaly-pachygyria spectrum in a North Indian boy with Wolcott-Rallison syndrome due to homozygous deletion of exon 1 in the EIF2AK3 gene

Atul Gupta

¹

,

Chaithanya Reddy

²

,

Lokesh Saini

²

,

Jaivinder Yadav

¹

,

Rakesh Kumar

¹

,

Jayne Houghton

³

,

Sian Ellard

⁴

,

Devi Dayal

¹

Endocrinology and Diabetes Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, India
Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India
Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom
Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter, United Kingdom

Pediatr Endocrinol Diabetes Metab 2021; 27 (4): 287–290

DOI: https://doi.org/10.5114/pedm.2021.107719

Online publish date: 2021/12/19

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AMA

Gupta A, Reddy C, Saini L, et al. Lissencephaly-pachygyria spectrum in a North Indian boy with Wolcott-Rallison syndrome due to homozygous deletion of exon 1 in the EIF2AK3 gene. Pediatric Endocrinology Diabetes and Metabolism. 2021;27(4):287-290. doi:10.5114/pedm.2021.107719.

APA

Gupta, A., Reddy, C., Saini, L., Yadav, J., Kumar, R.,  & Houghton, J. et al. (2021). Lissencephaly-pachygyria spectrum in a North Indian boy with Wolcott-Rallison syndrome due to homozygous deletion of exon 1 in the EIF2AK3 gene. Pediatric Endocrinology Diabetes and Metabolism, 27(4), 287-290. https://doi.org/10.5114/pedm.2021.107719

Chicago

Gupta, Atul, Chaithanya Reddy, Lokesh Saini, Jaivinder Yadav, Rakesh Kumar, Jayne Houghton,  and Sian Ellard et al. 2021. "Lissencephaly-pachygyria spectrum in a North Indian boy with Wolcott-Rallison syndrome due to homozygous deletion of exon 1 in the EIF2AK3 gene". Pediatric Endocrinology Diabetes and Metabolism 27 (4): 287-290. doi:10.5114/pedm.2021.107719.

Harvard

Gupta, A., Reddy, C., Saini, L., Yadav, J., Kumar, R., Houghton, J., Ellard, S.,  and Dayal, D. (2021). Lissencephaly-pachygyria spectrum in a North Indian boy with Wolcott-Rallison syndrome due to homozygous deletion of exon 1 in the EIF2AK3 gene. Pediatric Endocrinology Diabetes and Metabolism, 27(4), pp.287-290. https://doi.org/10.5114/pedm.2021.107719

MLA

Gupta, Atul et al. "Lissencephaly-pachygyria spectrum in a North Indian boy with Wolcott-Rallison syndrome due to homozygous deletion of exon 1 in the EIF2AK3 gene." Pediatric Endocrinology Diabetes and Metabolism, vol. 27, no. 4, 2021, pp. 287-290. doi:10.5114/pedm.2021.107719.

Vancouver

Gupta A, Reddy C, Saini L, Yadav J, Kumar R, Houghton J et al. Lissencephaly-pachygyria spectrum in a North Indian boy with Wolcott-Rallison syndrome due to homozygous deletion of exon 1 in the EIF2AK3 gene. Pediatric Endocrinology Diabetes and Metabolism. 2021;27(4):287-290. doi:10.5114/pedm.2021.107719.

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Background
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.

keywords:

Lissencephaly-pachygyria spectrum in a North Indian boy with Wolcott-Rallison syndrome due to homozygous deletion of exon 1 in the EIF2AK3 gene

Atul Gupta 1 , Chaithanya Reddy 2 , Lokesh Saini 2 , Jaivinder Yadav 1 , Rakesh Kumar 1 , Jayne Houghton 3 , Sian Ellard 4 , Devi Dayal 1

Wolcott-Rallison syndrome, EIF2AK3 gene, neonatal diabetes mellitus, monogenic diabetes, malformations of cortical development

Atul Gupta

¹

,

Chaithanya Reddy

²

,

Lokesh Saini

²

,

Jaivinder Yadav

¹

,

Rakesh Kumar

¹

,

Jayne Houghton

³

,

Sian Ellard

⁴

,

Devi Dayal

¹