Sjogren-Larsson syndrome is an autosomal recessive disorder characterized by defective activity of fatty aldehyde dehydrogenase. It presents as a triad of congenital ichthyosis, spastic diplegia, and mental retardation. The pathology behind this syndrome is the failure of degradation of fatty aldehydes. This case is presented for its rarity.
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Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte-lineage cells established from patients with Sjögren-Larsson syndrome.
Congenit Anom (Kyoto)
December 2024
Department of Physiology, Keio University School of Medicine, Tokyo, Japan.
Sjögren-Larsson syndrome (SLS) is an autosomal recessive leukodystrophy characterized by ichthyosis, intellectual disability, and progressive spastic paralysis caused by biallelic pathogenic variants in the ALDH3A2 gene that encodes the fatty aldehyde dehydrogenase, fatty aldehyde dehydrogenase (FALDH); FALDH catalyzes several metabolic reactions involved in fatty aldehyde oxidation. Only a few studies have been performed to determine the lipid profile of patients with SLS. In a previous postmortem study of the brain of a 65-year-old patient with SLS, lipidomic analysis revealed an accumulation of long-chain unsaturated ether lipid species in the white matter and gray matter.
View Article and Find Full Text PDFSjögren: unique surname, two men, four syndromes and one disease.
Arq Neuropsiquiatr
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Universidade Federal da Paraíba, Departamento de Medicina Interna, Serviço de Neurologia, João Pessoa PB, Brazil.
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- Henrik described conditions such as Sjögren's syndrome (keratoconjunctivitis sicca) and Sjögren reticular dystrophy, which affects visual acuity.
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Discovery of novel diagnostic biomarkers for Sjögren-Larsson syndrome by untargeted lipidomics.
Biochim Biophys Acta Mol Cell Biol Lipids
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United for Metabolic Diseases, the Netherlands; Department of Pediatric Neurology, Radboud University Medical Center, Amalia Children's Hospital, Donders Institute for Brain Cognition and Behaviour, Nijmegen, the Netherlands.
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- Sjögren-Larsson syndrome (SLS) is a rare condition that affects the brain, eyes, and skin due to a lack of a specific enzyme involved in fatty aldehyde metabolism.
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Coexistence of Ichthyosis, Yellowish Keratoderma, and Neurologic Manifestations: Think About Sjogren-Larsson Syndrome.
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