title: Sjogren-Larsson syndrome.
abstract: Sjogren-Larsson syndrome is a rare disease characterized by the occurrence of mental retardation, spastic diplegia and ichthyosis. The involvement of brain and skin is justified by a mutation in FALDH gene that affects the metabolism of fatty acids and leads to abnormal accumulation of lipids. The normal formation of multilamellar membranes in the stratum corneum and myelin is impaired. The aim of this chapter is to review the classical manifestation of the disease and its differential diagnosis.
authors.affiliation: Department of Neurology and Neurosurgery, Federal University of São Paulo, São Paulo, Brazil, liviaadutra@hotmail.com
authors.forename: Lívia Almeida
authors.initials: LA
authors.lastname: Dutra
authors.forename: Pedro
authors.initials: P
authors.lastname: Braga-Neto
authors.forename: José Luiz
authors.initials: JL
authors.lastname: Pedroso
authors.forename: Orlando Graziani
authors.initials: OG
authors.lastname: Povoas Barsottini
mesh_terms: D000445:Aldehyde Oxidoreductases / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D016111:Sjogren-Larsson Syndrome / Q000235:genetics / Q000473:pathology / Q000503:physiopathology
chemical_list: D000445:Aldehyde Oxidoreductases; C038828:long-chain-aldehyde dehydrogenase