Related Experiment Video
Updated: Aug 6, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
Bilateral nuclear cataracts as the first neonatal sign of Fanconi-Bickel syndrome
F Furlan1, R Santer, E Vismara
1Centro 'Fondazione Mariani' per le malattie metaboliche dell'Infanzia, Paediatric Clinic, University of Milan-Bicocca, Via Pergolesi 33, 20052, Monza, Italy. francesca.furlan@pediatriamonza.it
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.
Related Concept Videos
Photoreceptors and Visual Pathways
The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...