Vici syndrome

Vici syndrome is a rare autosomal recessive congenital disorder characterized by albinism, agenesis of the corpus callosum, cataracts, cardiomyopathy, severe psychomotor retardation, seizures, immunodeficiency, and recurrent severe infections.cite journal |author=Vici CD, Sabetta G, Gambarara M, "et al" |title=Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers |journal=Am. J. Med. Genet. |volume=29 |issue=1 |pages=1–8 |year=1988 |pmid=3344762 |doi=10.1002/ajmg.1320290102 |url=]

Eponym

Vici syndrome was first described by Carlo Dionisi-Vici et al. (Rome, Italy) in an article from 1988 about two brothers with a previously unreported disorder. Since then, a few articles have reported the same disorder, which subsequently obtained the name "Vici syndrome".cite journal |author=del Campo M, Hall BD, Aeby A, "et al" |title=Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance |journal=Am. J. Med. Genet. |volume=85 |issue=5 |pages=479–85 |year=1999 |pmid=10405446 |doi=10.1002/(SICI)1096-8628(19990827)85:5<479::AID-AJMG9>3.0.CO;2-D |url= ] cite journal |author=Chiyonobu T, Yoshihara T, Fukushima Y, "et al" |title=Sister and brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infections |journal=Am. J. Med. Genet. |volume=109 |issue=1 |pages=61–6 |year=2002 |pmid=11932994 |doi=10.1002/ajmg.10298 |url= ]

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