Abstract

Background: Vici syndrome is a rare, autosomal recessive multisystem disorder, first described in 1988 by Dionisi-Vici. This syndrome is characterized by corpus callosum agenesis, oculocutaneous hypopigmentation, cataracts, immunodeficiency, and cardiomyopathy with additional variable multisystem manifestations.
Case Presentation: We present a case of a 2-month-old infant, born preterm via Spontaneous vaginal delivery (SVD). He presented with fever, fits, and developmental delay. His weight and head circumference were below the third percentile for age and sex. In addition, he had hypopigmented skin and hair, a long philtrum, micrognathia, and high-arched palate. He had generalized hypotonia and hyporeflexia and his eyes showed horizontal nystagmus. His brain magnetic resonance imaging showed agenesis of corpus callosum, colpocephaly, and periventricular necrosis of white matter. He was admitted as a case of Vici syndrome and was treated for infections and seizures. He presented to emergency afterward as well for sepsis and eventually died of cardiopulmonary arrest at an age of 6 months.
Conclusion: Vici syndrome is a rare disease and around 80 cases have been reported so far. This is a first reported case in Pakistan. It has variable presentation but agenesis of corpus callosum, recurrent infections, microcephaly, cardiomyopathy, cataracts, seizures, developmental delay, and hypopigmentation remain the most common features.

Key words: Case report, Vici syndrome, agenesis of corpus callosum, hypopigmentation, developmental delay, microcephaly.