title: [Bilateral cataract in childhood years: always an indication for screening on a metabolic disorder].
abstract: In three young patients who presented with bilateral cataracts the cause proved to be an inherited metabolic disease. The first patient was a newborn aged 7 weeks, in whom galactokinase deficiency was diagnosed. The second patient was a boy aged 8 years with cerebrotendinous xanthomatosis. The third patient was a girl who was diagnosed with cataracts at the age of 3 months. At the age of 4 years the diagnosis 'rhizomelic chondrodysplasia punctata' was established. Screening for metabolic disorders in all children with bilateral cataracts is essential, as in some disorders progressive and severe symptoms can be avoided with timely initiation of treatment. In addition, diagnosis allows for family studies and genetic counselling to take place. This may result in prevention of disease by early therapeutic intervention and prenatal screening.
authors.affiliation: Universitair Medisch Centrum Utrecht, divisie Kinderen, Huispost KC 03.063.0, Lundlaan 6, 3584 EA Utrecht.
authors.forename: M T
authors.initials: MT
authors.lastname: Wijburg
authors.forename: L J Maillette de Buy
authors.initials: LJ
authors.lastname: Wenniger-Prick
authors.forename: A M
authors.initials: AM
authors.lastname: Bosch
authors.forename: G
authors.initials: G
authors.lastname: Visser
authors.forename: A
authors.initials: A
authors.lastname: Bams-Mengerink
mesh_terms: D002386:Cataract / Q000209:etiology* / Q000517:prevention & control; D002648:Child; D018902:Chondrodysplasia Punctata, Rhizomelic / Q000150:complications / Q000175:diagnosis*; D005260:Female; D005693:Galactosemias / Q000150:complications / Q000175:diagnosis*; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D008297:Male; D014973:Xanthomatosis / Q000150:complications / Q000175:diagnosis*