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

J Inherit Metab Dis. 2006 Oct;29(5):685. doi: 10.1007/s10545-006-0385-x. Epub 2006 Aug 12.

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.

Publication types

  • Case Reports

MeSH terms

  • Cataract / complications*
  • Cataract / diagnosis*
  • Fanconi Syndrome / diagnosis*
  • Fanconi Syndrome / pathology
  • Galactose / metabolism
  • Glucose / metabolism
  • Humans

Substances

  • Glucose
  • Galactose