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.
Individuals with type 1 suffer chronic attacks in spite of ongoing medical therapy, while those with type 2 experience sudden, acute and even potentially life-threatening attacks even though otherwise their asthma seems well managed.When first defined by Margaret Turner-Warwick in 1977, the term brittle asthma was used specifically to describe type 1, but as studies into the phenotype were conducted the second type was also distinguished. Treatment
In addition to any issues of treatment compliance, and maximised corticosteroids (inhaled or oral) and beta agonist,  brittle asthma treatment also involves for type 1 additional subcutaneous injections of beta2 agonist and inhalation of long acting beta-adrenoceptor agonist,  whilst type 2 needs allergen avoidance and self-management approaches. Since catastrophic attacks are unpredictable in type 2, patients may display identification of the issue, such as a MedicAlert bracelet, and carry an epinephrine autoinjector. Epidemiology
The condition is rare. 1999s Difficult Asthma estimates a prevalence of approximately 0.05% brittle asthma sufferers among the asthmatic population. Though found in all ages, it is most commonly found in individuals between the ages of 18 and 55; it is present in both sexes, though type 1 has been diagnosed in three times as many women as men. Hospitalization is more frequent for type 1 than type 2. == References ==