Moghaddam Farid Rezaei, Safar Farid, Asheghan Mahsa, Soltani Zahra Reza, Zade Fatemeh Dehghani
Department of Physical Medicine and Rehabilitation, Army University of Medical Sciences, 501 Hospital, Etemadzadeh Street, Western Fatemi Street, Tehran, Iran.
Cases J. 2009 Sep 9;2:8434. doi: 10.4076/1757-1626-2-8434.
Sjögren-Larsson syndrome is a rare autosomal recessive disorder that was originally recognized in the coexistence of congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation. We recently saw two cases with characteristic features of this rare syndrome. Two brothers aged 21 and 25 years presented with triad of congenital ichthyosis, mental retardation and spastic diplegia. Magnetic resonance imaging showed demyelinating disease in one of these cases. Electrodiagnostic studies were normal in all cases.
舍格伦-拉松综合征是一种罕见的常染色体隐性疾病，最初是在先天性鱼鳞病、痉挛性双瘫或四肢瘫以及智力发育迟缓同时存在的情况下被认识到的。我们最近见到了两例具有这种罕见综合征特征性表现的病例。两名年龄分别为21岁和25岁的兄弟，表现出先天性鱼鳞病、智力发育迟缓和痉挛性双瘫三联征。其中一例磁共振成像显示有脱髓鞘疾病。所有病例的电诊断研究均正常。
