Article
Sjogren-Larsson syndrome brain volumetric reductions demonstrated with an automated software.
Arquivos de neuro-psiquiatria - 1 Sept 2023
Castro José Thiago de Souza de, Saab Camilo Lotfi, Souto Mariam Patrícia Auada, Ortolam Juliane Giselle, Steiner Carlos Eduardo, Rezende Thiago Junqueira Ribeiro de, Reis Fabiano
Abstract excerpt
BACKGROUND: Sjogren-Larsson syndrome (SLS) is a neurocutaneous disease with an autosomal recessive inheritance, caused by mutations in the gene that encodes fatty aldehyde dehydrogenase (ALDH3A2), clinically characterized by ichthyosis, spastic diplegia, and cognitive impairment. Brain imaging plays an essential role in the diagnosis, demonstrating a nonspecific leukoencephalopathy. Data regarding brain atrophy...
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