A New Pattern of Brain and Cord Gadolinium Enhancement in Molybdenum Cofactor Deficiency: A Case Report
Giulia Lucignani,
Leonardo Vattermoli,
Maria Camilla Rossi-Espagnet,
Alessia Guarnera,
Antonio Napolitano,
Lorenzo Figà-Talamanca,
Francesca Campi,
Sara Ronci,
Carlo Dionisi Vici,
Diego Martinelli,
Carlo Gandolfo,
Daniela Longo
Affiliations
Giulia Lucignani
Functional and Interventional Neuroradiology Unit, Bambino Gesù Children’s Hospital IRCCS, Piazza Sant’Onofrio, 4, 00165 Rome, Italy
Leonardo Vattermoli
Department of Diagnostic Imaging and Interventional Radiology, Tor Vergata University of Rome, 00133 Rome, Italy
Maria Camilla Rossi-Espagnet
Functional and Interventional Neuroradiology Unit, Bambino Gesù Children’s Hospital IRCCS, Piazza Sant’Onofrio, 4, 00165 Rome, Italy
Alessia Guarnera
Functional and Interventional Neuroradiology Unit, Bambino Gesù Children’s Hospital IRCCS, Piazza Sant’Onofrio, 4, 00165 Rome, Italy
Antonio Napolitano
Medical Physics Unit, Bambino Gesù Children’s Hospital IRCCS, Piazza Sant’Onofrio, 4, 00165 Rome, Italy
Lorenzo Figà-Talamanca
Functional and Interventional Neuroradiology Unit, Bambino Gesù Children’s Hospital IRCCS, Piazza Sant’Onofrio, 4, 00165 Rome, Italy
Francesca Campi
Neonatal Intensive Care Unit, Bambino Gesù Children’s Hospital IRCCS, Piazza Sant’Onofrio, 4, 00165 Rome, Italy
Sara Ronci
Neonatal Intensive Care Unit, Bambino Gesù Children’s Hospital IRCCS, Piazza Sant’Onofrio, 4, 00165 Rome, Italy
Carlo Dionisi Vici
Department of Pediatric Specialties and Liver-Kidney Transplantation, Division of Metabolic Diseases and Drug Biology, Bambino Gesù Children’s Hospital IRCCS, Piazza Sant’Onofrio, 4, 00165 Rome, Italy
Diego Martinelli
Unit of Metabolism, Bambino Gesù Children’s Hospital IRCCS, Piazza Sant’Onofrio, 4, 00165 Rome, Italy
Carlo Gandolfo
Functional and Interventional Neuroradiology Unit, Bambino Gesù Children’s Hospital IRCCS, Piazza Sant’Onofrio, 4, 00165 Rome, Italy
Daniela Longo
Functional and Interventional Neuroradiology Unit, Bambino Gesù Children’s Hospital IRCCS, Piazza Sant’Onofrio, 4, 00165 Rome, Italy
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 neurologic deficits reflects the neurotoxicity mediated via sulphite accumulation, and it occurs within the first hours or days after birth, often leading to severe neurodegeneration and the patient’s death within days or months. The Imaging of Choice is a brain-specific MRI technique, which is usually performed without contrast and shows typical radiological findings in the early phase, such as diffuse cerebral oedema and infarction affecting the cortex and the basal ganglia and the white matter, as well as in the late phase, such as multicystic encephalomalacia. Our case report represents a novelty in the field, since the patient underwent a contrast-enhanced MRI to exclude a concomitant infectious disease. In the frame of the clinical presentation and laboratory data, we describe the MoCD Imaging findings for MRI morphological and advanced sequences, presenting a new contrast-enhanced MRI pattern characterized by the diffuse and linear leptomeningeal enhancement of brain, cord and spinal roots. The early identification of molybdenum cofactor deficiency is crucial because it may lead to the best multidisciplinary therapy for the patient, which is focused on the prompt and optimal management of the complications.
