Sjögren-Larsson syndrome (SLS) is a rare disorder with an autosomal recessive mode of inheritance. The three cardinal clinical signs are mental retardation, congenital ichthyosis and spastic diplegia or tetraplegia. The ichthyosis is seen at birth and initial presentation may be as a collodion baby. The ichthyosis tends to worsen with time, and usually presents after infancy as a brownish verrucous, lichenified hyperkeratosis. The signs of spasticity usually become manifest at 4–30 months of age. Many of the patients are never able to walk without assistance and a considerable number are wheelchair-dependent. Those able to walk have a typical spastic gait. Tendon reflexes are high and bilateral Babinski signs are often present. Short stature and thoracolumbar kyphoscoliosis may be present. Mental deficiency varies from moderate to severe. Speech defect is usually present and can be attributed to a combination of mental deficiency and pseudobulbar palsy. Occasionally epilepsy is present. Some SLS patients have ocular abnormalities, including a pathognomonic circular pattern of glistening white dots in the macular region of the retina. Defective development of tooth enamel is a minor feature of the syndrome.
KeywordsFatty Alcohol Mental Deficiency Cerebellar White Matter Fatty Aldehyde Myelin Loss
- Richards BW (1960) Sjögren-Larsson syndrome. In: Vinken PJ, Bruyn GW (eds) Handbook of clinical neurology, vol 13. North Holland, Amsterdam, pp 468–482Google Scholar
- Rizzo WB, Craft DA (1991) Sjögren-Larsson syndrome. Deficient activity of the fatty aldehyde dehydrogenase component of fatty alcohol: NAD oxidoreductase in cultured fibroblasts. J Clin Invest 88: 1643–1648Google Scholar