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Abstract
Techniques in Neurosurgery & Neurology
Vici Syndrome: Neuroimaging and Clinical Findings
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Yannic A Gretener, Thierry AGM Huisman, Nilesh K Desai and Stephen F Kralik*
Division of Neuroradiology, Department of Radiology, Texas Children’s Hospital and Baylor College of Medicine, USA
*Corresponding author:Stephen F Kralik, Edward B Singleton Department of Radiology, Texas Children’s Hospital and Baylor College of Medicine, 6701 Fannin Street, Suite 470, Houston, TX 77030, USA
Submission: February 23, 2023;Published: March 09, 2023
ISSN 2637-7748Volume5 Issue3
Abstract
Vici syndrome is a rare autosomal recessive multisystemic disorder secondary to a mutation in the EPG5 gene. The syndrome is characterized by brain malformations, the most common being corpus callosum agenesis, followed by pontine hypoplasia, and white matter hypomyelination. Clinical findings may include cataract, developmental delay, seizures, feeding disorders, cardiomegaly, and recurrent infections due to immunodeficiency. This report familiarizes the radiologist with clinical and imaging findings in Vici syndrome.
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