Sjögren-Larsson syndrome associated with the Dandy-Walker malformation: report of a case

The Sjögren-Larsson syndrome is defined as the association of ichthyosis, spastic diplegia or tetraplegia, 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 ophthalmologic findings are not rare. Previous studies with computerized tomographic (CT) scans have revealed no abnormalities of cranial anatomy. We report a 6-year-old boy with Sjögren-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 Sjögren-Larsson syndrome.