RT Book, Section A1 Bissonnette, Bruno A1 Luginbuehl, Igor A1 Engelhardt, Thomas SR Print(0) ID 1164068121 T1 Dionisi Vici Sabetta Gambarara Syndrome T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e YR 2019 FD 2019 PB McGraw-Hill Education PP New York, NY SN 9781259861789 LK accessanesthesiology.mhmedical.com/content.aspx?aid=1164068121 RD 2024/10/08 AB It is a rare congenital multisystem disorder characterized by the presence of agenesis of the corpus callosum, severe developmental delay, immunodeficiency, cleft lip/palate, cataract, hypopigmentation, and progressive cardiomyopathy. Affected individuals also have profound psychomotor retardation and hypotonia due to a myopathy. Vici Syndrome is the most typical example of a novel group of inherited neurometabolic conditions classified as congenital disorders of autophagy. Life expectancy is markedly reduced and usually death occurs before the age of 3 years due to cardiac failure or severe infection.