title: Bilateral nuclear cataracts as the first neonatal sign of Fanconi-Bickel syndrome.
abstract: A patient with early bilateral nuclear cataracts and subsequent diagnosis of Fanconi-Bickel syndrome is described. Despite impaired galactose and glucose metabolism, cataracts have been reported in only few cases with this disorder. We conclude that Fanconi-Bickel syndrome should be considered in the differential diagnosis of neonatal cataracts. The pathogenesis of this complication has not been fully elucidated.
authors.affiliation: Centro 'Fondazione Mariani' per le malattie metaboliche dell'Infanzia, Paediatric Clinic, University of Milan-Bicocca, Via Pergolesi 33, 20052, Monza, Italy. francesca.furlan@pediatriamonza.it
authors.forename: F
authors.initials: F
authors.lastname: Furlan
authors.forename: R
authors.initials: R
authors.lastname: Santer
authors.forename: E
authors.initials: E
authors.lastname: Vismara
authors.forename: F
authors.initials: F
authors.lastname: Santus
authors.forename: G
authors.initials: G
authors.lastname: Sersale
authors.forename: F
authors.initials: F
authors.lastname: Menni
authors.forename: R
authors.initials: R
authors.lastname: Parini
mesh_terms: D002386:Cataract / Q000150:complications* / Q000175:diagnosis*; D005198:Fanconi Syndrome / Q000175:diagnosis* / Q000473:pathology; D005690:Galactose / Q000378:metabolism; D005947:Glucose / Q000378:metabolism; D006801:Humans
chemical_list: D005947:Glucose; D005690:Galactose