Sjogren-Larsson syndrome brain volumetric reductions demonstrated with an automated software
José Thiago de Souza de Castro,
Camilo Lotfi Saab,
Mariam Patrícia Auada Souto
et al.
Abstract: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 and grey matter involvement is scarce and discordant.
Objective We performed a volumetric a… Show more
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