Bilateral nuclear cataracts as the first neonatal sign of Fanconi-Bickel syndrome.

F. Furlan; R. Santer; E. Vismara; F. Santus; G. Sersale; F. Menni; R. Parini

Bilateral nuclear cataracts as the first neonatal sign of Fanconi-Bickel syndrome.

F. Furlan, R. Santer, E. Vismara, F. Santus, G. Sersale, F. Menni, R. Parini

Fondazione IRCCS Ca' Granda- Ospedale Maggiore Policlinico

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	685
Number of pages	1
Journal	Journal of Inherited Metabolic Disease
Volume	29
Issue number	5
Publication status	Published - Oct 2006

ASJC Scopus subject areas

Genetics(clinical)
Genetics
Endocrinology

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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.",

author = "F. Furlan and R. Santer and E. Vismara and F. Santus and G. Sersale and F. Menni and R. Parini",

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T1 - Bilateral nuclear cataracts as the first neonatal sign of Fanconi-Bickel syndrome.

AU - Furlan, F.

AU - Santer, R.

AU - Vismara, E.

AU - Santus, F.

AU - Sersale, G.

AU - Menni, F.

AU - Parini, R.

PY - 2006/10

Y1 - 2006/10

N2 - 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.

AB - 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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