PDF(Pubmed)
Abstract：
Sjögren-Larsson syndrome (SLS) is a rare, inherited disorder passed down through families in an autosomal recessive pattern. Its main characteristics are spastic diplegic paralysis, congenital ichthyotic hyperkeratosis, and mild-to-moderate mental retardation. Lack of activity of microsomal fatty aldehyde dehydrogenase (FALDH) or its complete absence is the primary cause of this syndrome, leading to the build-up of fatty aldehydes and fatty alcohols in the body, particularly in the skin. In order to provide the best care for patients, educating them about the management of dry skin and offering genetic counseling are essential. We hereby present a case of an eight-year-old patient with spastic diplegia, congenital ichthyosis, and intellectual disability diagnosed with SLS.
摘要：
干燥-拉尔森综合征（SLS）是一种罕见的，遗传性疾病以常染色体隐性遗传模式通过家庭传播。其主要特点是痉挛性截瘫,先天性鱼鳞病角化过度，和轻度至中度智力低下。微粒体脂肪醛脱氢酶（FALDH）缺乏活性或完全缺失是该综合征的主要原因，导致体内脂肪醛和脂肪醇的积累，特别是在皮肤上。为了给病人提供最好的护理，教育他们关于干性皮肤的管理和提供遗传咨询是必不可少的。我们在此介绍一例8岁的痉挛型双瘫患者,先天性鱼鳞病,和诊断为SLS的智力残疾。
