title: Sjogren-larsson syndrome: case report and review of neurologic abnormalities and ichthyosis.
abstract: BACKGROUND
  Sjogren-Larsson syndrome (SLS) is characterized by the triad of ichthyosis, mental retardation, and spastic diplegia or quadriplegia. The hallmark of SLS is ichthyosis. We report a case and review the major differential diagnosis of SLS.
  
  
  METHODS
  A 21-year-old woman presented with seizures, mental retardation, spastic diplegia, and ichthyosis since birth. Computed tomography scan revealed hypodense areas in the periventricular white matter. Skin biopsy demonstrated a lamellar ichthyosis. These findings were compatible with SLS.
  
  
  CONCLUSIONS
  When ichthyosis is associated with spasticity and mental retardation, one should consider SLS. If hypogonadism, ataxia, retinitis, cardiomyopathy, or dwarfism is present, other diagnosis rather than SLS should be investigated.
authors.affiliation: Department of Neurology, Federal University of Sao Paulo, Sao Paulo, Brazil. liviaadutra@hotmail.com
authors.forename: Lívia Almeida
authors.initials: LA
authors.lastname: Dutra
authors.forename: Camila Catherine Henriques
authors.initials: CC
authors.lastname: de Aquino
authors.forename: Orlando Graziani Povoas
authors.initials: OG
authors.lastname: Barsottini
mesh_terms: D005260:Female; D006801:Humans; D016111:Sjogren-Larsson Syndrome / Q000175:diagnosis* / Q000503:physiopathology*; D055815:Young Adult