Shedding Light on Vici Syndrome: A Rare Neurodevelopmental and Multisystem Disorder Characterized by Agenesis or Underdevelopment of the Corpus Callosum

Dionisi-Vici-Sabetta-Gambarara (Vici) syndrome is an extremely rare autosomal recessive multisystem disorder caused by pathogenic variants in the ectopic P granules protein 5 (EPG5) gene, resulting in impaired autophagy.It is classically associated with five clinically diagnostic findings -corpus callosum abnormalities, cataracts, hypopigmentation, cardiomyopathy, and immunodeficiency -as well as multiple other features such as global developmental delay, hypotonia, and seizures.Diagnosis relies on clinical suspicion with confirmatory genetic testing.Prognosis is poor, with most affected individuals not surviving beyond early childhood, and management remains supportive.The proband is a 15-month-old male who presented at nine months with global developmental delay, generalized hypotonia, and microcephaly with dolichocephaly.Brain magnetic resonance imaging (MRI) at 10 months revealed dysgenesis of the corpus callosum and white matter diffusely.Subsequent genetic testing revealed compound heterozygous variants in the EPG5 gene, confirming a diagnosis of Vici syndrome, and included a unique novel allele not previously in any genetic database.Despite typical associations, cardiac evaluation at 12 months showed normal structure and function, and immunologic workup was largely unremarkable aside from mildly low immunoglobulin M (IgM).The patient experienced recurrent yet non-severe respiratory infections and demonstrated hyperacusis.He is currently managed with multidisciplinary care, including neurology, cardiology, genetics, and rehabilitation.This case illustrates a comparatively mild presentation of Vici syndrome, which we speculate is likely due to heterogeneity and mutation variation, as well as multifaceted follow-up and treatment, and highlights the phenotypic variability of this condition.Continued reporting and analysis of such cases is essential to better define genotype-phenotype correlations, identify prognostic indicators, and improve screening, clinical management, treatment, and counseling for affected families.