Sjogren-Larsson Syndrome (SLS) is a rare condition characterized by ichthyosis, spastic diplegia, and cognitive impairment, resulting from genetic mutations. Although brain imaging is crucial for diagnosis, information on gray matter involvement has been limited.
A recent study, titled “Sjogren-Larsson Syndrome Brain Volumetric Reductions Demonstrated with Automated Software,” analyzed the brain volume of two siblings with SLS to detect possible changes in gray matter. The results revealed significant volume reductions in various areas, including the cerebellar cortex, brainstem, thalamus, and globus pallidus.
According to the authors, these findings suggest that SLS is not exclusively a leukoencephalopathy and indicate dysfunction in thalamic motor pathways.
Read the full article on Scielo Brazil, Archives of Neuro-Psychiatry.
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