Vici syndrome is a rare disorder linked to mutations in the EPG5 gene (18q12.3), which codes for a protein that regulates autophagy. This disease manifests through a range of symptoms, including agenesis of the corpus callosum, brain abnormalities, hypopigmentation, bilateral cataracts, facial malformations and severe immune deficiency, leading to recurrent infections. Around 20 cases have been reported to date. The overall prognosis remains unfavorable, although early identification and proactive management can improve the management of cardiac and immune complications.
We describe the clinical case of Vici syndrome to highlight the importance of early genetic diagnosis for optimal symptom management.
An 8-month-old full-term infant presented with axial hypotonia, facial dysmorphia (hypertelorism, micrognathism, light hair, ogival palate), poor weight gain, and psychomotor retardation. Repeated episodes of infectious pneumonitis led to a workup for immune deficiency. A genetic study revealed a mutation in the EPG5 gene, confirming the diagnosis of Vici syndrome, associated with a drop in T and NK lymphocytes, suggesting a combined immune deficiency. A chest CT scan showed bronchiectasis of the left lower lobe. Ocular examinations revealed bilateral cataracts, and an echocardiogram revealed no cardiac abnormalities. The patient was treated symptomatically, including regular immunoglobulin infusions, anti-infective prophylaxis, and vitamin supplementation. HSCT was considered, but no match-related donor was available.
This case highlights the importance of early genetic diagnosis in Vici syndrome, allowing more targeted management of immune abnormalities and reducing the risk of serious infections. Although the overall prognosis is poor, proactive management of symptoms, particularly immune deficiency and pulmonary and cardiac complications, can improve the patient’s quality of life.
