Sjogren–Larsson Syndrome: A case series of five members from an extended family with a novel mutation

Abstract

is a rare neurocutaneous recessively inherited autosomal disease with spasticity (tetraplegia or diplegia), congenital ichthyosis and intellectual disability (mild to moderate). Less commonly, they are born preterm with retinal perifoveal crystalline inclusions and in some reports retinal pigmentary degeneration in the macular region, short stature, kyphoscoliosis, seizures, and delayed speech (Rizzo, 2016). The incriminated genetic mutation in SLS is the ALDH3A2 gene mutation; Gene/Locus MIM number 609523. ALDH3A2 gene encodes fatty aldehyde dehydrogenase enzyme (FALDH), an enzyme that catalyzes the oxidation of the fatty aldehyde to fatty acid (Rizzo, 2014).