Vici syndrome, also called immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum (or absent corpus callosum cataract immunodeficiency), 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. To date, about 50 cases have been reported. Presentation
This syndrome consists of a number of typical features. These include
Agenesis of the corpus callosum (80–99% patients)
Hypopigmentation of the eyes and hair (80–99% patients)
Cardiomyopathy (80–99% patients)
Combined immunodeficiency (80–99% patients)
Muscular hypotonia (80–99% patients)
Abnormality of retinal pigmentation (80–99% patients)
Recurrent chest infections (80–99% patients)
Abnormal EEG (80–99% patients)
Intellectual disability (80–99% patients)
Cataracts (75%)
Seizures (65%)
Renal abnormalities (15%)Infections of the gastrointestinal and urinary tracts are common. Swallowing and feeding difficulties early on may result in a failure to thrive. Optic nerve hypoplasia, nystagmus and photophobia may occur. Facial dysmorphism (cleft lip/palate and micrognathia) and syndactyly may be present. Sensorineural hearing loss may also be present.Death in infancy is not uncommon and is usually due to cardiac complications or severe infections. Genetics
Inheritance
Vici syndrome is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
Other features that may be seen on muscle biopsy include variability in fibre size, increase in internal and centralized nuclei, type 1 fibre hypotrophy with normally sized type 2 fibres, increased glycogen storage and variable vacuoles on light microscopy
The diagnosis is confirmed by sequencing of the EPG5. Differential diagnosis
This includes ataxia–telangiectasia, Chédiak–Higashi syndrome, DiGeorge syndrome, Griscelli syndrome and Marinesco–Sjögren syndrome. Treatment
There is no known curative treatment presently. Hearing aids and cataract surgery may be of use. Control of seizures, heart failure, and treatment of infection is essential. Tube feeding may be needed. 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.About 10 years later, del Campo et al.