Ophthalmic findings as clues for early diagnosis of Vici syndrome in a neonate

Aim: To report the earliest diagnosis of Vici syndrome in a three-week-old Omani girl. Methods: A three-week-old baby girl with blond hair and agenesis of the corpus callosum was born to consanguineous parents. An older sibling with similar findings had died at the age of six months with recurrent seizures and aspiration pneumonia without a diagnosis of the underlying systemic condition. After a standard ophthalmic and comprehensive systemic evaluation, full sequencing of the EPG5 gene was carried out. Results: The findings of bilateral anterior polar cataracts and oculocutaneous albinism in the child with agenesis of corpus callosum raised a suspicion of Vici syndrome. Immunology, neurology, cardiology, and genetic consultations were requested and revealed the presence of immunodeficiency, psychomotor retardation, and hypertrophic cardiomyopathy. Full sequencing of the EPG5 gene led to the detection of a homozygous c.6084 G > A (Trp2028Ter) mutation, confirming the diagnosis of Vici syndrome. Parental heterozygosity was confirmed. On follow-up, progressive microcephaly, failure to thrive, and significant developmental delay were noted, and a clinical decision not to resuscitate was made at the age of 22 months. Conclusions: We report the earliest diagnosis of Vici syndrome in the literature. Ophthalmic findings are a cardinal feature of this condition. The diagnosis should be considered in infants with hallmark features of oculocutaneous albinism, cataracts, and agenesis of the corpus callosum. Vici syndrome has a very poor prognosis due to progressive neuroregression superimposed on the neurodevelopmental anomaly.