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Vici syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Vici syndrome

Vici syndrome is a severe, multisystem disorder characterized by brain abnormalities, immune deficiency, and impaired autophagy.

Overview

Vici syndrome is a rare, severe disorder that begins early in life and affects many body systems, including the brain, immune system, heart, skin, and eyes.

Symptoms

The condition is marked by several characteristic features:

  • Brain Abnormalities: Agenesis of the corpus callosum (the tissue connecting the brain's hemispheres fails to form), pontine hypoplasia, and lower levels of myelin. Over time, brain tissue degeneration may occur, resulting in an unusually small head size (microcephaly).
  • Developmental Delays: Profound delays, including weak muscle tone (hypotonia) and the inability to walk or speak.
  • Immune Deficiency: Impaired immune function leading to recurrent, life-threatening infections, particularly respiratory, gastrointestinal, and urinary tract infections.
  • Heart Conditions:Cardiomyopathy, which worsens over time and makes it difficult for the heart to pump blood, sometimes accompanied by congenital heart defects.
  • Skin and Eye Abnormalities: Lighter skin and hair color (hypopigmentation) and clouding of the lenses of the eyes (cataracts).
  • Other Symptoms: Seizures, sensorineural hearing loss, cleft lip or palate, and abnormal function of the thyroid, liver, or kidneys.

Causes

Vici syndrome is caused by variants in the EPG5 gene. This gene provides instructions for making a protein involved in autophagy, a cellular process used to recycle or break down unnecessary cell parts. The EPG5 protein also aids the immune response. When autophagy is impaired, it disrupts the development and survival of cells in the brain and other organs, and the immune system fails to respond properly to foreign invaders.

Inheritance

This condition is inherited in an autosomal recessive pattern. Both copies of the gene in each cell must have a variant to cause the disorder. Parents of an affected individual each carry one copy of the altered gene but typically do not exhibit symptoms.

Frequently Asked Questions

Proactive measures include a strict immunization schedule (avoiding live vaccines unless specifically advised), prophylactic antibiotics during respiratory virus season, regular pulmonary clearance techniques, and prompt treatment of any fever or cough with a pediatric infectious disease specialist. Immunoglobulin replacement therapy is frequently used when serum IgG levels are low.
Currently, no disease‑modifying therapy is approved. Research is exploring mTOR inhibitors and autophagy‑enhancing agents, but they remain experimental. Clinical care focuses on supportive management—physical therapy for hypotonia, seizure control, and multidisciplinary monitoring—while families may consider enrollment in clinical trials when available.
Look for a combination of agenesis of the corpus callosum on brain imaging, severe hypotonia, unexplained recurrent infections, and hypopigmented skin or hair. When two or more of these features appear together, especially with cardiomyopathy on echo, clinicians often order a chromosomal microarray or targeted EPG5 sequencing to confirm the diagnosis.
Baseline echocardiography should be performed at diagnosis, followed by repeat studies every 6–12 months to monitor left ventricular function and wall thickness. If ejection fraction falls below 55 % or there is progressive dilation, referral to a pediatric cardiologist for possible ACE‑inhibitor or beta‑blocker therapy, and in severe cases, evaluation for heart‑failure transplantation, is indicated.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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