Sjögren-Larsson syndrome: physical and neurological features. A survey of 35 patients

Sjögren-Larsson syndrome (SLS) is characterized by congenital ichthyosis, mental retardation and spastic di- or tetraplegia. All patients older than one year have glistening dots in the fundus of the eye. SLS has autosomal recessive inheritance. All 35 SLS patients in Sweden, alive in 1978, were examined physically and neurologically by the authors. Prematurity was common but did not have any prognostic importance. Thirty-two patients had non-progressive pronounced or severe spastic diplegia, and two had severe tetraplegia. Those who were most motor-handicapped were also most mentally retarded. However, the degree of ichthyosis and the changes in the ocular fundus varied independently of the cerebral symptoms. There were no morphological abnormalities of the brain found in cranial computed tomography. Shortness of stature was due to poor development of paretic legs and contractures in joints and the spine due to spasticity. SLS should be suspected in a child with congenital ichthyosis. The diagnosis is confirmed when signs of spasticity and mental retardation are present before the age of three years.