Vici syndrome

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Vici Syndrome

Vici syndrome (/ˈviːkiː/; from Latin: vici, "conquer") is a rare, congenital, multisystem disorder characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. The syndrome was first described by E. J. Vici et al. in 1988.

Etymology

The term Vici syndrome is derived from the surname of the first author who described the condition, Dr. E. J. Vici. The Latin word vici means "I conquered", but in this context, it is used as a eponym.

Symptoms and Signs

Vici syndrome is characterized by five main features: agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. Other symptoms may include developmental delay, recurrent infections due to immunodeficiency, and failure to thrive.

Diagnosis

Diagnosis of Vici syndrome is based on clinical features, and can be confirmed by genetic testing. The condition is caused by mutations in the EPG5 gene.

Treatment

There is currently no cure for Vici syndrome. Treatment is supportive and based on the symptoms present in each individual. This may include physical therapy, special education, and treatment for heart problems, cataracts, and immune deficiencies.

Prognosis

The prognosis for individuals with Vici syndrome varies. Some individuals may have a normal lifespan, while others may have life-threatening complications in infancy or early childhood.

See Also

References

  • Vici CD, Sabetta G, Gambarara M, et al. Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers. Am J Med Genet. 1988;29(1):1-8.
  • Cullup T, Kho AL, Dionisi-Vici C, et al. Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nat Genet. 2013;45(1):83-87.

External links

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