Sjogren-Larsson syndrome brain volumetric reductions demonstrated with an automated software

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.

Keywords

• Sjogren-Larsson Syndrome
• Neurocutaneous Syndromes
• Thalamic Diseases
• Brain Diseases
• Síndrome de Sjogren-Larsson
• Síndromes Neurocutâneas
• Doenças Talâmicas
• Encefalopatias