Sjogren-larsson syndrome: case report and review of neurologic abnormalities and ichthyosis.
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.
Dutra
Lívia Almeida
LA
Department of Neurology, Federal University of Sao Paulo, Sao Paulo, Brazil. liviaadutra@hotmail.com
de Aquino
Camila Catherine Henriques
CC
Barsottini
Orlando Graziani Povoas
OG
D005260:Female; D006801:Humans; D016111:Sjogren-Larsson Syndrome / Q000175:diagnosis* / Q000503:physiopathology*; D055815:Young Adult