Sjogren-Larsson syndrome

This rare, ubiquitous neurocutaneous disorder is inherited in an autosomal recessive fashion. Its primary clinical manifestations are congenital ichth yosis,spastic diplegia or tetraplegia,and mental retardation. The causative biochemical defect has been identified as a deficiency of the enzyme fatty aldehyde dehydrogenase, a component of fatty alcohol:NAD(+) oxidoreductase . We present a case report of an affected 3.5 year old white girl to give a n overview of the pre- and postnatal diagnostic procedures as well as of th erapeutic options.