en POLSKI
eISSN: 2083-8441
ISSN: 2081-237X
Pediatric Endocrinology Diabetes and Metabolism
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SCImago Journal & Country Rank
 
4/2021
vol. 27
 
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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

1.
Endocrinology and Diabetes Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, India
2.
Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India
3.
Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom
4.
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
Online publish date: 2021/12/19
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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:

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


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