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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. Conclusion 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.

The spectrum of disorders associated with the IGHMBP2 (immunoglobulin μ-binding protein 2) gene pathogenic variants is still unknown. We discuss here an interesting case of genetically confirmed spinal muscular atrophy with respiratory distress type 1 (SMARD1) with atypical sparing of the diaphragm, thus expanding the phenotypic spectrum of this intriguing disorder and also highlight the importance of reconsidering the selection criteria for considering IGHMBP2 pathogenic variants.