Clinical ReportSjogren-Larsson Syndrome Case Report and Review of Neurologic Abnormalities and IchthyosisDutra, Lívia Almeida MD; de Aquino, Camila Catherine Henriques MD; Barsottini, Orlando Graziani Povoas MDAuthor Information From the Department of Neurology, Federal University of Sao Paulo, Sao Paulo, Brazil. Reprints: Lívia Almeida Dutra, MD, Rua Borges Lagoa 512-61C, Sao Paulo, Brazil 04038-000. E-mail: [email protected]. The Neurologist: November 2009 - Volume 15 - Issue 6 - p 332-334 doi: 10.1097/NRL.0b013e3181906ff9 Buy Metrics Abstract Introduction: 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. Case Report: 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. Conclusion: 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. © 2009 Lippincott Williams & Wilkins, Inc.