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Case Study on Rare Disease: Sjogren-Larsson Syndrome

Journal: International Journal of Science and Research (IJSR) (Vol.11, No. 3)

Publication Date:

Authors : ; ; ; ;

Page : 177-178

Keywords : Sjogren-Larsson syndrome; Congenital ichthyosis; mental retardation; spastic paresis;

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Abstract

I report a case of Sj?gren-Larsson syndrome (SLS) which is a rare autosomal recessive disorder with clinical outline (spastic diplegia, icthyosis, mental retardation). So, basically this disorder characterized by triad of congenitalichthyosis, spastic paresis, and mental retardation. It is an inherited fault of lipid metabolism triggered by absenceof fatty aldehyde dehydrogenase enzyme.

Last modified: 2022-05-14 21:02:36