Sjogren-Larsson-Syndrom

This rare, ubiquitous neurocutaneous disorder is inherited in an autosomal recessive fashion. Its primary clinical manifestations are congenital ichthyosis, 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 an overview of the pre- and postnatal diagnostic procedures as well as of therapeutic options.