Bilateral nuclear cataracts as the first neonatal sign of Fanconi-Bickel syndrome.
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.
Furlan
F
F
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
Santer
R
R
Vismara
E
E
Santus
F
F
Sersale
G
G
Menni
F
F
Parini
R
R
D002386:Cataract / Q000150:complications* / Q000175:diagnosis*; D005198:Fanconi Syndrome / Q000175:diagnosis* / Q000473:pathology; D005690:Galactose / Q000378:metabolism; D005947:Glucose / Q000378:metabolism; D006801:Humans
D005947:Glucose; D005690:Galactose