SJOGREN LARSSON SYNDROME- a case report
Abstract
Abstract : SJOGREN LARSSON SYNDROME(SLS) is a rare
autosomal recessive disorder characterized by a triad of
mental retardation, congenital ichthyosis and diplegia or
tetraplegia. This disorder needs to be differentiated from other
neurocutaneous disorders like Neutral lipid storage disease,
Refsums disease and HID syndrome (Hysterix like Ichthyosis
and Deafness). We report here a classical case of SLS with
features of congenital ichthyosis, moderate mental retardation
and spastic paraparesis.
Keyword :SLS(Sjogren Larsson syndrome), ichthyosis, diplegia,
paraparesis, FALDH(fatty aldehyde dehydrogenase).
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