Summary
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.
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Communicating editor: Alberto Burlina
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Furlan, F., Santer, R., Vismara, E. et al. Bilateral nuclear cataracts as the first neonatal sign of Fanconi–Bickel syndrome. J Inherit Metab Dis 29, 685 (2006). https://doi.org/10.1007/s10545-006-0385-x
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DOI: https://doi.org/10.1007/s10545-006-0385-x