Vici syndrome

Vici syndrome (also known as immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum) is a rare, severe multisystem disorder caused by mutations in the EPG5 gene, which encodes a protein essential for autophagy — the cellular process of recycling damaged components. The disease was first described by Carlo Vici and colleagues in 1988. Vici syndrome is characterized by five cardinal features: agenesis (absence) of the corpus callosum, cataracts, oculocutaneous hypopigmentation (reduced skin and eye pigmentation), cardiomyopathy, and combined immunodeficiency. Additional features frequently include profound developmental delay, microcephaly, failure to thrive, sensorineural hearing loss, seizures, and skeletal muscle myopathy. The condition affects multiple body systems including the central nervous system, immune system, heart, eyes, and skin. The immunodeficiency involves both humoral and cellular immunity, making affected individuals highly susceptible to recurrent and severe infections. Cardiomyopathy, which can be hypertrophic or dilated, is a major cause of morbidity and mortality. Most affected children also demonstrate significant hypotonia and progressive neurological decline. Vici syndrome typically presents in the neonatal or early infantile period and follows a severe clinical course. Unfortunately, the prognosis is poor, with many affected individuals dying in early childhood, often due to cardiac failure, respiratory complications, or overwhelming infections. There is currently no curative treatment for Vici syndrome. Management is supportive and multidisciplinary, focusing on nutritional support, treatment of infections, cardiac monitoring and management, ophthalmologic care, and developmental therapies. Immunoglobulin replacement therapy may be considered for the immunodeficiency component.

Common questions about Vici syndrome