Sjögren-Larsson Syndrome Associated with the Dandy-Walker Malformation: Report of a Case

Abstract: The Sjdgren-Larsson syndrome is defined as the association of ichthyosis, spastic diplegia or tetrapiegia, and mental retardation. Although most cases described have come from the Swedish county of Vasterbotten, isolated reports from the United States and elsewhere do exist Numerous neurologic abnormalities have been reported with this syndrome, including speech defects, seizures, and pyramidal tract disorders. Abnormal ophthaimologic findings are not rare. Prevlous studies with computerized tomographic (CT) scans have revealed no abnormalities of cranial anatomy. We report a 6-year-old boy with Sidgren-Larsson syndrome who had a Dandy-Walker malformation as demonstrated by diagnostic imaging by CT and magnetic resonance imaging scans. This case illustrates that developmental defects of the central nervous system can also occur in association with Sjdgren-Larsson syndrome.