When Genes Misfire: ARV1 and the Unseen Battle Against Pediatric Epileptic Encephalopathy

The rare ARV1 gene encodes a protein that is crucial for homeostasis and sterol metabolism. It is vital for maintaining membrane integrity and cellular stability. Given the limited epidemiological data, it is evident that ARV1 mutations are rare, showing significant neurological and systemic manifestations, including developmental delays, epilepsy, or cardiomyopathy. We report a case of a six-month-old female presenting with global developmental delay, hypotonia, and poor fine motor milestones. MRI revealed bifrontal subarachnoid spaces and abnormalities in the right parietal lobe. A homozygous pathogenic variant in the ARV1 gene (p.Phe144Argfs*5) was confirmed through whole exome sequencing (WES), thereby diagnosing autosomal recessive developmental and epileptic encephalopathy-38 (DEE38). Through this report, we aim to highlight the importance of early diagnosis in rare genetic disorders and increase awareness among healthcare professionals.