Sjogren-Larsson Syndrome: Case Report of a 21-Year-Old Woman

    November 2009 in “ ˜The œNeurologist/˜The œneurologist ”
    Lívia Almeida Dutra, Camila C. Aquino, Orlando Graziani Póvoas Barsottini
    TLDR If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
    Sjogren-Larsson syndrome (SLS) is characterized by ichthyosis, mental retardation, and spastic diplegia or quadriplegia. A case of a 21-year-old woman with these symptoms, along with seizures, was reported. Her CT scan showed hypodense areas in the periventricular white matter, and a skin biopsy confirmed lamellar ichthyosis, consistent with SLS. The report emphasized that SLS should be considered when ichthyosis is associated with spasticity and mental retardation, but other diagnoses should be explored if additional symptoms like hypogonadism, ataxia, retinitis, cardiomyopathy, or dwarfism are present.
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