Sister and brother with Vici syndrome: Agenesis of the corpus callosum, albinism, and recurrent infections

Abstract

A sister and brother with Vici syndrome are described. They both had oculocutaneous albinism, agenesis of the corpus callosum, cataracts, and cardiomyopathy. They were born to healthy unrelated parents, and had postnatal growth retardation, profound developmental delay, hypotonia, and cataracts. The sister had recurrent infections, and died of progressive heart failure at age 19 months. The brother is alive at age six months with mild cardiomyopathy, and had a single episode of acute bronchitis at age three months. Review of the clinical manifestations of the sibs we described and six children reported in the literature indicates that Vici syndrome is a distinct clinical entity. Its main clinical manifestations include growth retardation, profound developmental delay, hypotonia, albinism, agenesis of the corpus callosum, cataracts, cardiomyopathy, and recurrent infections. The occurrence of the syndrome in three pairs of sibs of both sexes born to unaffected parents supports autosomal recessive inheritance.

Role ofEpg5in selective neurodegeneration and Vici syndrome

“…20 Vici syndrome is a recessively inherited multisystem disorder, characterized by agenesis of the corpus callosum, cutaneous hypopigmentation, bilateral cataracts, cleft lip and palate, hypotonia and combined immunodeficiency. 21 Since the original report, nine other papers have described patients with Vici syndrome, [22][23][24][25][26][27][28][29][30] confirming it as a distinct clinical entity.…”

“…All reported patients have postnatal growth retardation, developmental delay and severe psychomotor delay, and most of them die before the age of 3. [21][22][23][24][25][26][27][28][29][30] In contrast, Epg5 knockout mice grow normally into sexually mature adults. Neurological defects gradually worsen from 4 mo of age, but the animals still survive to 10-12 mo.…”

“…Neurological defects gradually worsen from 4 mo of age, but the animals still survive to 10-12 mo. Facial dysmorphism, including cleft lip and palate, high-arched palate, and micrognathia have been reported in most cases of Vici syndrome, [21][22][23][24][26][27][28][29][30] but these abnormalities are absent in Epg5 knockout mice. Cataract is another common trait of Vici syndrome that is not obviously detected in Epg5 knockout mice (Fig.…”

Clinical utility gene card for: Vici Syndrome

“…1,[3][4][5][6][7][8][9][10][11][12] However, a proportion of cases are probably either undiagnosed or unreported, suggesting that this figure provides an underestimate of the actual frequency. Vici syndrome has been found in equal frequencies in the different ethnic groups studied.…”

Autophagy and human diseases

“…Vici syndrome is a recessively inherited multisystem disorder characterized by callosal agenesis, cataracts, hypopigmentation, cardiomyopathy, psychomotor retardation, and immunodeficiency with cleft lip and palate [28][29][30][31].…”