Hyperinsulinism in a patient with a Zellweger Spectrum Disorder and a 16p11.2 deletion syndrome

Eva M.M Hoytema Van Konijnenburg,Ilse K Luirink,Sebastian E.E Schagen,Marc Engelen,Kevin Berendse,Bwee Tien Poll-The,Malika Chegary

doi:10.1016/j.ymgmr.2020.100590

Eva M.M Hoytema Van Konijnenburg, Ilse K Luirink + Show 5 more

Open Access

https://doi.org/10.1016/j.ymgmr.2020.100590

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Abstract

Hyperinsulinism in a patient with a Zellweger Spectrum Disorder and a 16p11.2 deletion syndrome

Highlights

Zellweger Spectrum Disorders (ZSDs) are a heterogeneous group of autosomal recessive disorders characterized by a defect in peroxisome biogenesis and are caused by mutations in PEX genes
Severe ZSDs are characterized by profound neonatal onset neurological symptoms, liver dysfunction, primary adrenal insufficiency, failure to thrive and craniofacial dysmorphism; these patients typically die during the first year of life [2,3]
We report a case of a neonate with a severe ZSD and hypoglycemia due to hyperinsulinism

Summary

Introduction

Zellweger Spectrum Disorders (ZSDs) are a heterogeneous group of autosomal recessive disorders characterized by a defect in peroxisome biogenesis and are caused by mutations in PEX genes. Severe ZSDs are characterized by profound neonatal onset neurological symptoms, liver dysfunction, primary adrenal insufficiency, failure to thrive and craniofacial dysmorphism; these patients typically die during the first year of life [2,3]. We report a case of a neonate with a severe ZSD and hypoglycemia due to hyperinsulinism.

Results

Conclusion