[Pyridoxine-dependent seizures].

Background: Pyridoxine-dependent seizures is an autosomal, recessively inherited inborn error of metabolism with recurrent long-lasting seizures with onset usually in infancy, but also up to three years of age. The seizures are resistant to conventional anticonvulsants. The condition ends fatally if diagnosis and administration of pyridoxine (vitamin B6 ) in pharmacological doses is delayed too long.

Ten years follow up of a boy with a complex chromosomal rearrangement: going from a > 5 to 15-breakpoint CCR.

A moderately mentally retarded 10-year-old boy of very short stature was found initially to have a complex chromosomal rearrangement (CCR) involving chromosome 1, 2, 3, 4, and 8. A balanced twelve-breakpoint CCR was suggested after extensive investigations including subtelomere FISH, whole chromosome paints, comparative genomic hybridization (CGH), multicolor FISH (MFISH), and spectral karyotyping (SKY). SKY and MFISH gave slightly discrepant results.