title: Early diagnosis of Canavan syndrome: how can we get there?
abstract: Canavan syndrome is a rare genetic disorder characterised by progressive severe leukodystrophy involving the degeneration of white matter. Currently, there is no effective therapy, but after recent studies using early gene therapy, the outcome has appeared to improve. It is of fundamental importance to recognise signs of neonatal Canavan syndrome early on. We describe a case of neonatal Canavan syndrome in which diagnosis was made only at the fourth month of age.
authors.affiliation: Department of Emergency, NICU, AORN Santobono Pausilipon, Naples, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: De Bernardo
authors.affiliation: Department of Emergency, Federico II University, Naples, Italy.
authors.forename: Maurizio
authors.initials: M
authors.lastname: Giordano
authors.affiliation: Department of Emergency, NICU, AORN Santobono Pausilipon, Naples, Italy.
authors.forename: Desiree
authors.initials: D
authors.lastname: Sordino
authors.affiliation: Department of Neurology, AORN Santobono Pausilipon, Naples, Italy.
authors.forename: Salvatore
authors.initials: S
authors.lastname: Buono
mesh_terms: D001224:Aspartic Acid / Q000031:analogs & derivatives* / Q000652:urine; D017825:Canavan Disease / Q000175:diagnosis* / Q000235:genetics*; D042241:Early Diagnosis; D015316:Genetic Therapy; D006801:Humans; D007223:Infant; D009682:Magnetic Resonance Spectroscopy
chemical_list: D001224:Aspartic Acid; C000179:N-acetylaspartate