Vici syndrome with pathogenic homozygous EPG5 gene mutation: A case report and literature review.

Rationale: Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, congenital cataracts, cardiomyopathy, combined immunodeficiency, significant developmental delay, and hypopigmentation and in some cases loss of hearing. It is caused by mutations in Ectopic P-granules protein 5 gene, which is responsible for regulating autophagy activity.

Patient Concern: We report a 6-month-old Saudi female patient who was the second-born baby of first cousins.