Abstract

Early infantile epileptic encephalopathy (EIEE) syndrome occurs during early infancy, up to 3 months of age, and typically within the first 2 weeks. Previous data link EIEE-38 in humans to a deficiency of the ARV1 gene (ACAT related enzyme 2 required for viability 1; ACAT for Acyl-CoA:cholesterol acyltransferases). ARV1 is needed in sphingolipid metabolism and implies an important role for ARV1 in lipid/membrane homeostasis. Here we report the second case worldwide of ARV1 c.294+1G>A in a Lebanese infant (a homozygous girl diagnosed at the age of one year) inducing EIEE type 38. This severe phenotype is explained by the exon 2 skipping that encodes 40 amino acids in N-terminal zinc-binding motif in the AHD (the conserved ARV1 homology domain). By comparing the phenotypes of these In 2 individuals, we noticed almost identical phenotypes with some differences regarding the ophthalmic exam and the brain MRI (Table 1). However, these differences result most probably from genotypic or environmental elements that are not related to the intronic mutation itself.

Keywords: Early Infantile Epileptic Encephalopathy (EIEE); ARV1; Magnetic Resonance Imaging (MRI)

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Citation

Citation: Chadi AL Alam., et al. “Correlation between ARV1 Mutation and Early Infantile Epileptic Encephalopathy: A Second Case Worldwide". Acta Scientific Clinical Case Reports 2.2 (2021): 13-18.

Copyright

Copyright: © 2021 Chadi AL Alam., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.