Jagell S, Heijbel J
Helv Paediatr Acta. 1982;37(6):519-30.
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.
舍格伦-拉松综合征（SLS）的特征为先天性鱼鳞病、智力发育迟缓以及痉挛性双瘫或四肢瘫。所有一岁以上的患者眼底均有闪烁小点。SLS为常染色体隐性遗传。作者对1978年瑞典境内存活的35例SLS患者进行了体格和神经学检查。早产情况常见，但无任何预后意义。32例患者患有非进行性显著或严重痉挛性双瘫，2例患有严重四肢瘫。运动障碍最严重的患者智力发育迟缓也最严重。然而，鱼鳞病的程度和眼底变化与脑部症状无关。头颅计算机断层扫描未发现脑部有形态学异常。身材矮小是由于瘫痪腿部发育不良以及因痉挛导致的关节和脊柱挛缩。先天性鱼鳞病患儿应怀疑患有SLS。若在三岁前出现痉挛和智力发育迟缓迹象，则可确诊。
