Vici syndrome is a rare, severe, multisystem disorder indicated by cardiomyopathy, corpus callosum agenesis, cataracts, oculocutaneous hypopigmentation, and immune dysfunction. While these are considered the characteristic features of the disease, patients may also suffer from developmental delay, progressive microcephaly, hypotonia, seizures, breathing difficulties, and a failure to thrive. Ophthalmological abnormalities also involve ocular albinism, retinal hypopigmentation, and nystagmus. Facial dysmorphia may include hypertelorism, low set ears, cleft palate, and micrognathia.
The syndrome does not have a racial or gender bias. It is a congenital disorder and symptoms usually present in the first year of life. Prognosis is poor and most patients succumb to the disease in infancy. Diagnosis is based on the presence of the characteristic clinical features. Genetic analysis of the EPG5 gene can help confirm the diagnosis. While there is currently no cure for Vici syndrome, patients require treatment for their individual symptoms. This may include antibiotics for infections, intravenous immunoglobulin replacement for immunodeficiency, and anti-convulsants for seizures.
Vici syndrome follows an autosomal recessive pattern of inheritance. It is caused by mutations in the EPG5 gene that is involved in the highly conserved autophagy pathway. Both homozygous and compound heterozygous mutations in the EPG5 gene have been associated with Vici syndrome. Most of these are truncating mutations that result in reduced EPG5 protein.
See Saudi Arabia > [Byrne et al., 2016]
Byrne et al. (2016) identified 30 families with members that have Vici syndrome. Of these, two families were from Saudi Arabia, two were from UAE, two were Israeli-Arabs, one was Egyptian and one was Omani. Most subjects in the cohort presented in the neonatal stage, mainly with hypotonia and breathing difficulties. Symptoms included callosal agenesis, cataracts, hypopigmentation, cardiomyopathy, immune dysfunction, developmental delay, progressive microcephaly, and failure to thrive. The disease was found to be relentless in progression and neurodegenerative. Several patients had a severe seizure disorder. Patients also showed a variable presentation of neuroradiological features, such as pontine hypoplasia, delayed myelination, and thalamic signal intensity changes. Many patients died in infancy and the median survival age was analyzed to be 24 months. A total of 39 different EPG5 mutations (mostly truncating) were discovered in the cohort. survival outcomes were found to be significantly better in patients with the p.Gln336Arg mutation rather than truncating mutations. Survival was also better in patients with compound heterozygous mutations compared to homozygous mutations.
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