A New Pattern of Brain and Cord Gadolinium Enhancement in Molybdenum Cofactor Deficiency: A Case Report

• Main Authors: Giulia Lucignani (Author), Leonardo Vattermoli (Author), Maria Camilla Rossi-Espagnet (Author), Alessia Guarnera (Author), Antonio Napolitano (Author), Lorenzo Figà-Talamanca (Author), Francesca Campi (Author), Sara Ronci (Author), Carlo Dionisi Vici (Author), Diego Martinelli (Author), Carlo Gandolfo (Author), Daniela Longo (Author)
• Format: Bog
• Udgivet: MDPI AG, 2023-06-01T00:00:00Z.
• Fag: article
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Molybdenum cofactor deficiency (MoCD) is a rare and severe autosomal recessive in-born error of metabolism caused by the mutation in MOCS1, MOCS2, MOCS3 or GEPH genes, with an incidence ranging between 1 in 100,000 and 200,000 live births. The clinical presentation with seizures, lethargy and neurol...